Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1-Reference-Cited by-同舟云学术

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1

Published:2009-05-05 Issue:15 Volume:18 Page:2768-2778
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Sabbagh Audrey,Pasmant Eric,Laurendeau Ingrid,Parfait Béatrice,Barbarot Sébastien,Guillot Bernard,Combemale Patrick,Ferkal Salah,Vidaud Michel,Aubourg Patrick,Vidaud Dominique,Wolkenstein Pierre

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/18/15/2768/17246258/ddp212.pdf

Reference46 articles.

1. The genetic aspects of neurofibromatosis;Carey;Ann. N. Y. Acad. Sci.,1986

2. Clinical and epidemiological features;Friedman,1999

3. 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;Fahsold;Am. J. Hum. Genet.,2000

4. Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients;Ars;J. Med. Genet.,2003

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