A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female

Molecular Genetics and Metabolism

Volumn 88, Issue 3, 2006, Pages 272-279

  Bernard, Pascal ^a   Ludbrook, Louisa ^b,c   Queipo, Gloria ^a   Dinulos, Mary Beth ^d   Kletter, Gad B ^e   Zhang, Yao Hua ^a   Phelan, James K ^a   McCabe, Edward R B ^a,f   Harley, Vincent R ^b   Vilain, Eric ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b MONASH MEDICAL CENTRE   (Australia)

^c MONASH UNIVERSITY   (Australia)

^d CHILDREN S HOSPITAL AT DARTMOUTH   (United States)

^e SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^f MATTEL CHILDREN S HOSPITAL   (United States)

Author keywords

Adrenal development; AHC; DAX1; NHR; NR0B1; NR5A1; SF1

Indexed keywords

NUCLEAR RECEPTOR DAX 1; STEROIDOGENIC FACTOR 1;

ADRENAL GLAND MALFORMATION; ARTICLE; CELL NUCLEUS; CONGENITAL ADRENAL HYPOPLASIA; CONTROLLED STUDY; CYTOPLASM; DISEASE ASSOCIATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; IN VITRO STUDY; MISSENSE MUTATION; PHENOTYPE; PREPUBERTY; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; TRANSCRIPTION TERMINATION; WILD TYPE;

ACTIVE TRANSPORT, CELL NUCLEUS; ADRENAL HYPERPLASIA, CONGENITAL; ADULT; AGE OF ONSET; ANIMALS; CELL NUCLEUS; CELLS, CULTURED; CHILD; DNA-BINDING PROTEINS; FEMALE; HUMANS; MALE; MICE; MUTATION, MISSENSE; PEDIGREE; PROTEIN BINDING; PROTEIN TRANSPORT; PUBERTY; RECEPTORS, RETINOIC ACID; REPRESSOR PROTEINS; TRANS-ACTIVATION (GENETICS); TRANSCRIPTION FACTORS;

EID: 33745609818     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.12.004     Document Type: Article

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