Ontology highlight
ABSTRACT:
SUBMITTER: Qin Y
PROVIDER: S-EPMC1950834 | biostudies-literature | 2007 Sep
REPOSITORIES: biostudies-literature
Qin Yingying Y Choi Youngsok Y Zhao Han H Simpson Joe Leigh JL Chen Zi-Jiang ZJ Rajkovic Aleksandar A
American journal of human genetics 20070710 3
NOBOX (newborn ovary homeobox gene) is an oocyte-specific homeobox gene that plays a critical role in early folliculogenesis and represents a candidate gene for nonsyndromic ovarian failure. We investigated whether mutations in the NOBOX gene cause premature ovarian failure (POF). We sequenced the NOBOX gene in 96 white women with POF and discovered seven known single-nucleotide polymorphisms and four novel variations, two of which, p.Arg355His and p.Arg360Gln, cause missense mutations in the ho ...[more]