(Q28211373)

https://api.crossref.org/works/10.1177%2F088307380201700803

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

Genomic organization of the neurofibromatosis 1 gene (NF1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

Genetics of neurofibromatosis 1 and the NF1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

A 90 kb DNA deletion associated with neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

Unequal meiotic crossover: a frequent cause of NF1 microdeletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

Methods for rapid detection of a recurrent nonsense mutation and documentation of phenotypic features in neurofibromatosis type 1 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

Familial café au lait spots: a variant of neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

A de novo Alu insertion results in neurofibromatosis type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

Analysis of mutations at the neurofibromatosis 1 (NF1) locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

Prenatal diagnosis of neurofibromatosis type 1: from flanking RFLPs to intragenic microsatellite markers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

The angiogenic factor midkine is aberrantly expressed in NF1-deficient Schwann cells and is a mitogen for neurofibroma-derived cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803

Blind Analysis of Denaturing High-Performance Liquid Chromatography as a Tool for Mutation Detection

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380201700803