(Q56988813)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7607663%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

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

1 reference

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21 October 2019

1

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21 October 2019

Annett Böddrich

2

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21 October 2019

author name string

H Peters

3

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21 October 2019

S Tinschert

4

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21 October 2019

A Buske

5

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21 October 2019

D Kaufmann

6

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21 October 2019

P Nürnberg

7

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21 October 2019

publication date

1 July 1995

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21 October 2019

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21 October 2019

volume

96

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21 October 2019

page(s)

95-98

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21 October 2019

issue

1

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https://scigraph.springernature.com/pub.10.1007/bf00214193

21 October 2019

exact match

0 references

cites work

Rapid nonradioactive detection by PCR of pHHH202/RsaI RFLP linked to neurofibromatosis type I

1 reference

12 December 2020

An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1).

1 reference

12 December 2020

A small deletion and an adjacent base exchange in a potential stem-loop region of the neurofibromatosis 1 gene.

1 reference

12 December 2020

Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese

1 reference

12 December 2020

Somatic mutations in the neurofibromatosis 1 gene in human tumors

1 reference

12 December 2020

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

12 December 2020

The rapid detection of unknown mutations in nucleic acids.

1 reference

12 December 2020

Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene

1 reference

12 December 2020

Psoralen-modified oligonucleotide primers improve detection of mutations by denaturing gradient gel electrophoresis and provide an alternative to GC-clamping

1 reference

12 December 2020

Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.

1 reference

12 December 2020

Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference

1 reference

12 December 2020

Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene.

1 reference

12 December 2020

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

1 reference

12 December 2020

Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene

1 reference

12 December 2020

The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae

1 reference

12 December 2020

Analysis of mutations at the neurofibromatosis 1 (NF1) locus

1 reference

12 December 2020

1 reference

12 December 2020

Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene.

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00214193

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7607663%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference