A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy-Reference-Cited by-同舟云学术

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

Published:2011-10-19 Issue:2 Volume:21 Page:358-370
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Weterman Marian A.J.,Sorrentino Vincenzo,Kasher Paul R.,Jakobs Marja E.,van Engelen Baziel G.M.,Fluiter Kees,de Wissel Marit B.,Sizarov Aleksander,Nürnberg Gudrun,Nürnberg Peter,Zelcer Noam,Schelhaas H. Jurgen,Baas Frank

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/21/2/358/17257155/ddr471.pdf

Reference32 articles.

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2. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot–Marie–Tooth disease type 1A;Patel;Nat. Genet.,1992

3. The peripheral myelin protein gene PMP-22 is contained within the Charcot–Marie–Tooth disease type 1A duplication;Timmerman;Nat. Genet.,1992

4. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot–Marie–Tooth disease type 1A;Valentijn;Nat. Genet.,1992

5. Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability;Zhang;Am. J. Hum. Genet.,2010

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