Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients-Reference-Cited by-同舟云学术

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

Published:2010-01-15 Issue:8 Volume:19 Page:1399-1412
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Braida Claudia,Stefanatos Rhoda K.A.,Adam Berit,Mahajan Navdeep,Smeets Hubert J.M.,Niel Florence,Goizet Cyril,Arveiler Benoit,Koenig Michel,Lagier-Tourenne Clotilde,Mandel Jean-Louis,Faber Catharina G.,de Die-Smulders Christine E.M.,Spaans Frank,Monckton Darren G.

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/19/8/1399/13926450/ddq015.pdf

Reference70 articles.

1. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy;Buxton;Nature,1992

2. Cloning of the essential myotonic dystrophy region and mapping of the putative defect;Aslanidis;Nature,1992

3. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy;Harley;Nature,1992

4. An unstable triplet repeat in a gene related to myotonic muscular dystrophy;Fu;Science,1992

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