Genetic evidence of genuine' empty follicle syndrome: A novel effective mutation in the LHCGR gene and review of the literature

Human Reproduction

Volumn 32, Issue 4, 2017, Pages 944-953

  Yuan, Ping ^a   He, Zuyong ^a   Zheng, Lingyan ^a   Wang, Wenjun ^a   Li, Yu ^a   Zhao, Haijing ^a   Zhang, Victor Wei ^b,c   Zhang, Qingxue ^a   Yang, Dongzi ^a  

^a SUN YAT SEN UNIVERSITY   (China)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c Luoxuan 4th Road   (China)

Author keywords

activating; empty follicle syndrome; LHCGR; mutation; partially inactivating

Indexed keywords

ALANINE; CHORIONIC GONADOTROPIN; G PROTEIN COUPLED RECEPTOR; HUMAN MENOPAUSAL GONADOTROPIN; LUTEINIZING HORMONE RECEPTOR; MUTANT PROTEIN; RECOMBINANT FOLLITROPIN; RECOMBINANT LUTEINIZING HORMONE; THREONINE;

ADULT; AMINO ACID SUBSTITUTION; CASE REPORT; CONTROLLED STUDY; FEMALE; FEMALE INFERTILITY; GENE MUTATION; GENUINE EMPTY FOLLICLE SYNDROME; GYNECOLOGIC DISEASE; HOMOZYGOSITY; HUMAN; IN VITRO FERTILIZATION; OOCYTE RETRIEVAL; OVARIAN RESERVE; OVARY FOLLICLE STRATUM GRANULOSUM; PROTEIN DOMAIN; PROTEIN LOCALIZATION; REVIEW; CHEMISTRY; GENETIC ASSOCIATION STUDY; GENETICS; GROWTH, DEVELOPMENT AND AGING; OOCYTE; OVARY DISEASE; PATHOLOGY; PROTEIN TERTIARY STRUCTURE; YOUNG ADULT;

AMINO ACID SUBSTITUTION; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFERTILITY, FEMALE; OOCYTE RETRIEVAL; OOCYTES; OVARIAN DISEASES; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, LH; YOUNG ADULT;

EID: 85016998735     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/dex015     Document Type: Review

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