Mutation analysis of nr5a1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias

PLoS ONE

Volumn 6, Issue 10, 2011, Pages

  Allali, Slimane ^a   Muller, Jean Baptiste ^a   Brauner, Raja ^a   Lourenço, Diana ^b   Boudjenah, Radia ^b   Karageorgou, Vasiliki ^b   Trivin, Christine ^c   Lottmann, Henri ^c   Lortat Jacob, Stephen ^c   Nihoul Fékété, Claire ^a   de Dreuzy, Olivier ^d   McElreavey, Ken ^b   Bashamboo, Anu ^b  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b INSTITUT PASTEUR   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d BICÊTRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

INHIBIN B; MUELLERIAN INHIBITING FACTOR; MUTANT PROTEIN; STEROIDOGENIC FACTOR 1; TRANSCRIPTION FACTOR GATA 4; INHIBIN;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CONTROLLED STUDY; FEMALE; GENE ACTIVITY; GENE FREQUENCY; GENETIC ASSOCIATION; GONADAL DYSGENESIS; HUMAN; HUMAN CELL; HYPOSPADIAS; INFANT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NR5A1 GENE; PRESCHOOL CHILD; PROTEIN BLOOD LEVEL; PROTEIN PROTEIN INTERACTION; REGULATOR GENE; SEX DIFFERENTIATION DISORDER; TRANSACTIVATION; AMINO ACID SEQUENCE; ANIMAL; BLOOD; CATTLE; CHEMISTRY; GENETICS; HETEROZYGOTE; METABOLISM; MOLECULAR GENETICS; MOUSE; NEWBORN; NUCLEOTIDE SEQUENCE; PHENOTYPE; RAT; RETROSPECTIVE STUDY; TRANSCRIPTION INITIATION;

46, XY DISORDERS OF SEX DEVELOPMENT; ADOLESCENT; AMINO ACID SEQUENCE; ANIMALS; ANTI-MULLERIAN HORMONE; CATTLE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; HYPOSPADIAS; INFANT; INFANT, NEWBORN; INHIBINS; MALE; MICE; MOLECULAR SEQUENCE DATA; PHENOTYPE; RATS; RETROSPECTIVE STUDIES; STEROIDOGENIC FACTOR 1; TRANSCRIPTIONAL ACTIVATION;

EID: 80054789767     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0024117     Document Type: Article

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