(Q39814751)

English

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain

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Europe PubMed Central

PMC publication ID

14 September 2017

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain (English)

1 reference

Europe PubMed Central

PMC publication ID

14 September 2017

author name string

Fahsold R

1

1 reference

Europe PubMed Central

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14 September 2017

Hoffmeyer S

2

1 reference

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14 September 2017

Mischung C

3

1 reference

Europe PubMed Central

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14 September 2017

Gille C

4

1 reference

Europe PubMed Central

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14 September 2017

Ehlers C

5

1 reference

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14 September 2017

Kücükceylan N

6

1 reference

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14 September 2017

Abdel-Nour M

7

1 reference

Europe PubMed Central

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14 September 2017

Gewies A

8

1 reference

Europe PubMed Central

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14 September 2017

Peters H

9

1 reference

Europe PubMed Central

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14 September 2017

Kaufmann D

10

1 reference

Europe PubMed Central

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14 September 2017

Buske A

11

1 reference

Europe PubMed Central

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14 September 2017

Tinschert S

12

1 reference

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14 September 2017

Nürnberg P

13

1 reference

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14 September 2017

language of work or name

0 references

publication date

1 March 2000

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14 September 2017

American Journal of Human Genetics

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Europe PubMed Central

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14 September 2017

66

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Europe PubMed Central

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14 September 2017

3

1 reference

Europe PubMed Central

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14 September 2017

790-818

1 reference

Europe PubMed Central

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14 September 2017

describes a project that uses

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Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1288164/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

1 reference

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22 September 2017

Structural analysis of the GAP-related domain from neurofibromin and its implications

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Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.

1 reference

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22 September 2017

Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

1 reference

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22 September 2017

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22 September 2017

Confirmation of a double-hit model for the NF1 gene in benign neurofibromas

1 reference

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22 September 2017

Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma

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22 September 2017

The spectrum of RB1 germ-line mutations in hereditary retinoblastoma

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22 September 2017

Somatic mosaicism in a patient with neurofibromatosis type 1.

1 reference

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22 September 2017

Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules

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22 September 2017

An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.

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22 September 2017

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22 September 2017

Multiple substitutions in the von Willebrand factor gene that mimic the pseudogene sequence.

1 reference

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22 September 2017

Mutations in the p53 tumor suppressor gene: clues to cancer etiology and molecular pathogenesis

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22 September 2017

Molecular etiology of factor VIII deficiency in hemophilia A.

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22 September 2017

Inhibition of the EGF-activated MAP kinase signaling pathway by adenosine 3',5'-monophosphate

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22 September 2017

CpNpG methylation in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

22 September 2017

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

22 September 2017

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

22 September 2017

Detecting base pair substitutions in DNA fragments by temperature-gradient gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

22 September 2017

Translation initiation in the HEXB gene encoding the beta-subunit of human beta-hexosaminidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

22 September 2017

The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

22 September 2017

The neurofibromatosis type 1 gene encodes a protein related to GAP

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

22 September 2017

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

22 September 2017

Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

22 September 2017

Identification and characterization of the gene for neurofibromatosis type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

22 September 2017

cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

22 September 2017

Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

22 September 2017

The BCR gene encodes a novel serine/threonine kinase activity within a single exon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

22 September 2017

Somatic mutations in the neurofibromatosis 1 gene in human tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

22 September 2017

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

22 September 2017

On the mutation rate of neurofibromatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

22 September 2017

Ras-GTP levels are elevated in human NF1 peripheral nerve tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

25 September 2017

Phosphorylation of neurofibromatosis type 1 gene product (neurofibromin) by cAMP-dependent protein kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

25 September 2017

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

25 September 2017

Two independent mutations in a family with neurofibromatosis type 1 (NF1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

15 June 2018

Bipolar clamping improves the sensitivity of mutation detection by temperature gradient gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

15 June 2018

Detection of APC mutations by a yeast-based protein truncation test (YPTT).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

15 June 2018

Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

15 June 2018

Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

15 June 2018

Do NF1 gene deletions result in a characteristic phenotype?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

15 June 2018

Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

15 June 2018

Rescue of a Drosophila NF1 mutant phenotype by protein kinase A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

15 June 2018

Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

15 June 2018

Evidence of DNA methylation in the neurofibromatosis type 1 (NF1) gene region of 17q11.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

15 June 2018

Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

15 June 2018

An RsaI polymorphism in the transcribed region of the neurofibromatosis (NF1)-gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

15 June 2018

Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5' part of the gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

15 June 2018

Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

15 June 2018

Temperature-gradient gel electrophoresis of nucleic acids: analysis of conformational transitions, sequence variations, and protein-nucleic acid interactions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

15 June 2018

NF1-related locus on chromosome 15

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

15 June 2018

Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

20 August 2018

A novel mutation L1425P in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE). Mutation in brief no. 230. Online.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

20 August 2018

A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

20 August 2018

NF1 mutation analysis using a combined heteroduplex/SSCP approach.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

20 August 2018

Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

20 August 2018

Requirement of Drosophila NF1 for activation of adenylyl cyclase by PACAP38-like neuropeptides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

20 August 2018

Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

20 August 2018

Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

20 August 2018

Identification of neurofibromatosis 1 (NF1) homologous loci by direct sequencing, fluorescence in situ hybridization, and PCR amplification of somatic cell hybrids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

20 August 2018

Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

20 August 2018

Genotype, malleotype, phenotype, and randomness: lessons from neurofibromatosis-1 (NF-1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

20 August 2018

Detection of a neurofibromatosis type I (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

20 August 2018

Genomic organization of the neurofibromatosis 1 gene (NF1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288164

20 August 2018

Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE)

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clonal origin of tumor cells in a plexiform neurofibroma with LOH in NF1 intron 38 and in dermal neurofibromas without LOH of the NF1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients. Mutations in bri

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of CpG C‐to‐T mutations in neurofibromatosis type 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Germline mutations in NF1 patients with malignancies

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterisation of inherited and sporadic mutations in neurofibromatosis type-1

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reduced neurofibromin content but normal GAP activity in a patient with neurofibromatosis type 1 caused by a five base pair duplication in exon 12b of the NF1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel mutations in exons 19a and 20 and a BsaI polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Site and sequence specific DNA methylation in the neurofibromatosis (NF1) gene includes C5839T: the site of the recurrent substitution mutation in exon 31

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic mosaicism for deletion of the entire NF1 gene identified by FISH

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New evidence for a mutation hotspot in exon 37 of the NF1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neurofibromatosis-1: a maximum likelihood estimation of mutation rate

1 reference

https://pubmed.ncbi.nlm.nih.gov/10712197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

Europe PubMed Central

PMC publication ID

14 September 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 September 2017

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