Infantile cardioencephalopathy due to a COX15 gene defect: Report and review-Reference-Cited by-同舟云学术

Infantile cardioencephalopathy due to a COX15 gene defect: Report and review

Published:2011-03-15 Issue:4 Volume:155 Page:840-844
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Alfadhel Majid,Lillquist Yolanda P.,Waters Paula J.,Sinclair Graham,Struys Eduard,McFadden Deborah,Hendson Glenda,Hyams Lauren,Shoffner John,Vallance Hilary D.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33881/fullpdf

Reference18 articles.

1. Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy;Antonicka;Am J Hum Genet,2003

2. Regulation of the heme A biosynthetic pathway in Saccharomyces cerevisiae;Barros;FEBS Lett,2002

3. Mitochondrial ferredoxin is required for heme A synthesis in Saccharomyces cerevisiae;Barros;J Biol Chem,2002

4. Diagnostic criteria for respiratory chain disorders in adults and children;Bernier;Neurology,2002

5. Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency;Bugiani;J Med Genet,2005

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