Loss-of-function mutation in GATA4 causes anomalies of human testicular development

Proceedings of the National Academy of Sciences of the United States of America

Volumn 108, Issue 4, 2011, Pages 1597-1602

  Lourenço, Diana ^a   Brauner, Raja ^b   Rybczyńska, Magda ^a   Nihoul Fékété, Claire ^b   McElreavey, Ken ^a   Bashamboo, Anu ^a  

^a INSTITUT PASTEUR   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

LIVER RECEPTOR HOMOLOG 1; MUELLERIAN INHIBITING FACTOR; MUTANT PROTEIN; TRANSCRIPTION FACTOR GATA 4;

ARTICLE; CASE REPORT; CONGENITAL HEART DISEASE; CONTROLLED STUDY; DNA BINDING; GENE ACTIVITY; GENE MUTATION; HUMAN; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN PROTEIN INTERACTION; SEX DIFFERENTIATION DISORDER; TESTIS DEVELOPMENT; TRANSACTIVATION;

ADOLESCENT; AMINO ACID SEQUENCE; CELL NUCLEUS; CHILD; CHILD, PRESCHOOL; DISORDERS OF SEX DEVELOPMENT; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FAMILY HEALTH; FEMALE; FOLLOW-UP STUDIES; GATA4 TRANSCRIPTION FACTOR; GREEN FLUORESCENT PROTEINS; HEART DEFECTS, CONGENITAL; HEK293 CELLS; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN BINDING; SEQUENCE HOMOLOGY, AMINO ACID; STEROIDOGENIC FACTOR 1; TESTIS; TRANSCRIPTION FACTORS;

EID: 79952123599     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1010257108     Document Type: Article

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