Mutations in NROB1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita

Human Mutation

Volumn 18, Issue 6, 2001, Pages 472-487

  Phelan, James K ^b   Mccabe, Edward R B ^a,c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c CHILDREN S HOSPITAL LOS ANGELES   (United States)

Author keywords

Adrenal hypoplasia congenita; AHC; DAX1; Dosage sensitive sex reversal; DSS; Nonsense susceptible codons; NR5A1; NROB1; Nuclear receptor superfamily; SF 1; Steroidogenic factor 1; X linked

Indexed keywords

GENE PRODUCT; PROTEIN NR5A1; PROTEIN NROB1; UNCLASSIFIED DRUG; AD4 BINDING PROTEIN; AD4-BINDING PROTEIN; DAX 1 PROTEIN; DAX-1 PROTEIN; DNA BINDING PROTEIN; DNA BINDING PROTEINS; RETINOIC ACID RECEPTOR; TRANSCRIPTION FACTOR;

ADRENAL DISEASE; ADRENAL INSUFFICIENCY; CLINICAL FEATURE; CONGENITAL ADRENAL HYPOPLASIA; DNA POLYMORPHISM; GENE LOCUS; GENE MUTATION; HUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PEDIGREE; PRIORITY JOURNAL; REVIEW; ADRENAL CORTEX INSUFFICIENCY; GENETICS; MUTATION;

ADRENAL GLAND HYPOFUNCTION; DNA-BINDING PROTEINS; HUMAN; MUTATION; RECEPTORS, RETINOIC ACID; SUPPORT, U.S. GOV'T, P.H.S.; TRANSCRIPTION FACTORS;

EID: 0034747336     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1225     Document Type: Review

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