Novel NR5A1 Missense Mutation in Premature Ovarian Failure: Detection in Han Chinese Indicates Causation in Different Ethnic Groups

PLoS ONE

Volumn 8, Issue 9, 2013, Pages

  Jiao, Xue ^a   Qin, Yingying ^a   Li, Guangyu ^a   Zhao, Shidou ^a   You, Li ^a   Ma, Jinlong ^a   Simpson, Joe Leigh ^b,c   Chen, Zi Jiang ^a,d  

^a SHANDONG PROVINCIAL HOSPITAL AFFILIATED TO SHANDONG UNIVERSITY   (China)

^b March of Dimes Birth Defects Foundation   (United States)

^c FLORIDA INTERNATIONAL UNIVERSITY   (United States)

^d SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

[No Author keywords available]

Indexed keywords

AROMATASE; ASPARTIC ACID; CHOLESTEROL MONOOXYGENASE (SIDE CHAIN CLEAVING); INHIBIN A; TYROSINE;

ADULT; AMH GENE; ARTICLE; CELLULAR DISTRIBUTION; CHINESE; COHORT ANALYSIS; CONTROLLED STUDY; CYP11A1 GENE; CYP19A1 GENE; FEMALE; GENE; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC SCREENING; HAPLOINSUFFICIENCY; HETEROZYGOSITY; HUMAN; IDIOPATHIC DISEASE; IN VITRO STUDY; INHIBIN A GENE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTANT; NR5A1 GENE; NUCLEOTIDE SEQUENCE; PREMATURE OVARIAN FAILURE; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; TRANSACTIVATION; TRANSCRIPTION INITIATION;

ADULT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CAUSALITY; ETHNIC GROUPS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE; PRIMARY OVARIAN INSUFFICIENCY; SEQUENCE HOMOLOGY, AMINO ACID; STEROIDOGENIC FACTOR 1;

EID: 84884488195     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0074759     Document Type: Article

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