(Q53940611)

22 May 2018

title

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

1 reference

22 May 2018

author name string

Dublin S

series ordinal

1

1 reference

22 May 2018

Riccardi VM

series ordinal

2

1 reference

22 May 2018

Stephens K

series ordinal

3

1 reference

22 May 2018

publication date

1 January 1995

1 reference

22 May 2018

published in

Human Mutation

1 reference

22 May 2018

volume

5

1 reference

22 May 2018

issue

1

1 reference

22 May 2018

page(s)

81-85

1 reference

22 May 2018

Analysis of mutations at the neurofibromatosis 1 (NF1) locus

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050111

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050111

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050111

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050111

7 January 2021

Recent progress toward understanding the molecular biology of von Recklinghausen neurofibromatosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050111

7 January 2021

Familial neurofibromatosis type 1: clinical experience with DNA testing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050111

7 January 2021

Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050111

7 January 2021

The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050111

7 January 2021

A routine method for the establishment of permanent growing lymphoblastoid cell lines

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050111

7 January 2021

Linkage studies with chromosome 17 DNA markers in 45 neurofibromatosis 1 families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050111

7 January 2021

The neurofibromatosis type 1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050111

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380050111

1 reference

22 May 2018

PubMed ID

7728153

1 reference

22 May 2018