Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival-Reference-Cited by-同舟云学术

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Published:2009-03-25 Issue:12 Volume:18 Page:2149-2165
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Human Molecular Genetics

Author:

Hucthagowder V.,Morava E.,Kornak U.,Lefeber D. J.,Fischer B.,Dimopoulou A.,Aldinger A.,Choi J.,Davis E. C.,Abuelo D. N.,Adamowicz M.,Al-Aama J.,Basel-Vanagaite L.,Fernandez B.,Greally M. T.,Gillessen-Kaesbach G.,Kayserili H.,Lemyre E.,Tekin M.,Turkmen S.,Tuysuz B.,Yuksel-Konuk B.,Mundlos S.,Van Maldergem L.,Wevers R. A.,Urban Z.

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/18/12/2149/1807266/ddp148.pdf

Reference42 articles.

1. A Novel Elastin Gene Mutation Resulting in an Autosomal Dominant Form of Cutis Laxa

2. Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene

3. An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa

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