Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?-Reference-Cited by-同舟云学术

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

Published:2014-07-30 Issue:5 Volume:23 Page:596-601
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Pasmant Eric,Parfait Béatrice,Luscan Armelle,Goussard Philippe,Briand-Suleau Audrey,Laurendeau Ingrid,Fouveaut Corinne,Leroy Chrystel,Montadert Annelore,Wolkenstein Pierre,Vidaud Michel,Vidaud Dominique

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2014145.pdf

Reference42 articles.

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3. Tucker T, Wolkenstein P, Revuz J, Zeller J, Friedman JM : Association between benign and malignant peripheral nerve sheath tumors in NF1. Neurology 2005; 65: 205–211.

4. Clementi M, Barbujani G, Turolla L, Tenconi R : Neurofibromatosis-1: a maximum likelihood estimation of mutation rate. Hum Genet 1990; 84: 116–118.

5. Fahsold R, Hoffmeyer S, Mischung C et al: 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. Am J Hum Genet 2000; 66: 790–818.

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