Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy-Reference-Cited by-同舟云学术

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy

Published:2007-04-02 Issue:10 Volume:16 Page:1241-1252
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Fernandez-Vizarra Erika,Bugiani Marianna,Goffrini Paola,Carrara Franco,Farina Laura,Procopio Elena,Donati Alice,Uziel Graziella,Ferrero Iliana,Zeviani Massimo

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/16/10/1241/1749904/ddm072.pdf

Reference31 articles.

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3. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure;de Lonlay;Nat. Genet.,2001

4. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L;Visapaa;Am. J. Hum. Genet.,2002

5. Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene;De Meirleir;Am. J. Med. Genet. A,2003

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