C6ORF66 is an assembly factor of mitochondrial complex I
Article Abstract:
A missense mutation in a conserved residue of C6ORF66 gene which encodes a 20.2kDa mitochondrial protein is identified through homozygosity mapping on a consanguineous family. It is suggested that C6ORF66 is an assembly factor of complex I.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
Health aspects, Physiological aspects, Mitochondria, Consanguinity
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
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NOBOX homeobox mutation causes premature ovarian failure
Article Abstract:
An argument whether mutations in the newborn ovary homeobox (NOBOX) gene cause premature ovarian failure (POF) is studied and it is concluded that NOBOX mutations can cause POF.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Homeobox genes
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
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Subjects list: Research, Gene mutations, Gene mutation
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