Rare Autosomal Recessive Cardiac Valvular Form of Ehlers-Danlos Syndrome Results from Mutations in the COL1A2 Gene That Activate the Nonsense-Mediated RNA Decay Pathway-Reference-Cited by-同舟云学术

Rare Autosomal Recessive Cardiac Valvular Form of Ehlers-Danlos Syndrome Results from Mutations in the COL1A2 Gene That Activate the Nonsense-Mediated RNA Decay Pathway

Published:2004-05 Issue:5 Volume:74 Page:917-930
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Schwarze Ulrike,Hata Ryu-Ichiro,McKusick Victor A.,Shinkai Hiroshi,Hoyme H. Eugene,Pyeritz Reed E.,Byers Peter H.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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