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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.

Author: Elpeleg, Orly, Shaag, Avraham, Saada, Ann, Edvardson, Simon, Rapoport, Matan, Amry, Khaled, Miller, Chaya, Lorberboum-Galski, Haya
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

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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.

Author: Simpson, Joe Leigh, Yingying Qin, Youngsok Choi, Han Zhao, Rajkovic, Aleksandar, Zi-Jiang Chen
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Homeobox genes

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Subjects list: Research, Gene mutations, Gene mutation
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