NR5A1 (SF-1) mutations are not a major cause of primary ovarian insufficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 5, 2013, Pages

  Voican, Adela ^a,b,d   Bachelot, Anne ^c,d   Bouligand, Jérôme ^a,d,e   Francou, Bruno ^a,d,e   Dulon, Jérôme ^c,d   Lombès, Marc ^a,d,e   Touraine, Philippe ^c,d   Guiochon Mantel, Anne ^a,d,e  

^a UNIVERSITÉ PARIS SACLAY   (France)

^b IULIU HATIEGANU UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

^c SORBONNE UNIVERSITÉ   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e BICÊTRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; LEUCINE; PROLINE; SERINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL EVALUATION; CONTROLLED STUDY; DIMERIZATION; DNA BINDING; DNA POLYMORPHISM; FAMILY HISTORY; FEMALE; GENE; GENE FREQUENCY; GENE FUNCTION; GENE LOCATION; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NR5A1 GENE; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; RECEPTOR BINDING;

ADULT; AFRICA, NORTHERN; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; COHORT STUDIES; EUROPE; FAMILY HEALTH; FEMALE; GENES, REPORTER; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PRIMARY OVARIAN INSUFFICIENCY; RECOMBINANT PROTEINS; REPRODUCIBILITY OF RESULTS; SEQUENCE ALIGNMENT; STEROIDOGENIC FACTOR 1; YOUNG ADULT;

EID: 84877713978     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-4111     Document Type: Article

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