Open AccessA dominant negative mutation at the ATP binding domain ofAMHR2is associated with a defective anti-Müllerian hormone signaling pathway
Author(s) -
Lin Li,
Xueya Zhou,
Xi Wang,
Jing Wang,
Wei Zhang,
Binbin Wang,
Yunxia Cao,
Kehkooi Kee
Publication year - 2016
Publication title -
molecular human reproduction
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.143
H-Index - 122
eISSN - 1460-2407
pISSN - 1360-9947
DOI - 10.1093/molehr/gaw040
Subject(s) - biology , missense mutation , mutation , in silico , genetics , gene , anti müllerian hormone , signal transduction , endocrinology , microbiology and biotechnology , hormone
Does a heterozygous mutation in AMHR2, identified in whole-exome sequencings (WES) of patients with primary ovarian insufficiency (POI), cause a defect in anti-Müllerian hormone (AMH) signaling?
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