Mutations in NR5A1 associated with ovarian insufficiency

New England Journal of Medicine

Volumn 360, Issue 12, 2009, Pages 1200-1210

  Loureņo, Diana ^a   Brauner, Raja ^b,c   Lin, Lin ^d   De Perdigo, Arantzazu ^e   Weryha, Georges ^f   Muresan, Mihaela ^g   Boudjenah, Radia ^a   Guerra Junior, Gil ^h   Maciel Guerra, Andréa T ^h   Achermann, John C ^d   McElreavey, Ken ^a   Bashamboo, Anu ^a  

^a INSTITUT PASTEUR   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c BICÊTRE HOSPITAL   (France)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e Laboratoire de Cytogénétique   (Luxembourg)

^f CHU NANCY BRABOIS   (France)

^g Bon Secours Hospital   (France)

^h UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

STEROIDOGENIC FACTOR 1; STEROIDOGENIC FACTOR 1, HUMAN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GONADAL DYSGENESIS; HUMAN; KARYOTYPE 46,XX; KARYOTYPE 46,XY; MISSENSE MUTATION; NEWBORN; NR5A1 GENE; OVARY INSUFFICIENCY; PRIORITY JOURNAL; PROTEIN FUNCTION; SCHOOL CHILD; SEQUENCE ANALYSIS; AMENORRHEA; AMINO ACID SEQUENCE; ANIMAL; CHEMISTRY; GENETICS; GENOTYPE; MALE; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PEDIGREE; PENETRANCE; PHENOTYPE; PREMATURE OVARIAN FAILURE; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT; TESTIS;

ADOLESCENT; AMENORRHEA; AMINO ACID SEQUENCE; ANIMALS; CHILD; FEMALE; GENOTYPE; GONADAL DYSGENESIS, 46,XY; HUMANS; INFANT, NEWBORN; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; OVARIAN FAILURE, PREMATURE; PEDIGREE; PENETRANCE; PHENOTYPE; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT; STEROIDOGENIC FACTOR 1; TESTIS; YOUNG ADULT;

EID: 62749102793     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa0806228     Document Type: Article

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