Functional effects of DAX-1 mutations identified in patients with X-linked adrenal hypoplasia congenita

Metabolism: Clinical and Experimental

Volumn 60, Issue 11, 2011, Pages 1545-1550

  Choi, Jin Ho ^a   Park, Jung Young ^a   Kim, Gu Hwan ^a   Jin, Hye Young ^a   Lee, Beom Hee ^a   Kim, Jae Hyun ^b   Shin, Choong Ho ^c   Yang, Sei Won ^c   Yoo, Han Wook ^a  

^a University of Ulsan   (South Korea)

^b Inje University College of Medicine   (South Korea)

^c Seoul National University   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CYTOSINE; FLUDROCORTISONE; FOLLITROPIN; GENOMIC DNA; HYDROCORTISONE; LUCIFERASE; LUTEINIZING HORMONE; NUCLEAR RECEPTOR DAX 1; STEROIDOGENIC ACUTE REGULATORY PROTEIN; STEROIDOGENIC FACTOR 1; TESTOSTERONE ENANTATE; THYMINE;

ADRENAL DISEASE; ADRENAL INSUFFICIENCY; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CODON; DNA ISOLATION; DNA SEQUENCE; DNA VECTOR; EMBRYO; EMBRYO CELL; ENZYME ACTIVITY; FOLLITROPIN BLOOD LEVEL; FRAMESHIFT MUTATION; GENE ACTIVITY; GENE REPRESSION; GENE SEQUENCE; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; HYPERPIGMENTATION; HYPOGONADOTROPIC HYPOGONADISM; HYPOPLASIA; IN VITRO STUDY; KIDNEY CELL; KOREA; LEUKOCYTE; LUTEINIZING HORMONE BLOOD LEVEL; MUTAGENESIS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRIORITY JOURNAL; PROMOTER REGION; SCHOOL CHILD; STOP CODON; TRANSIENT TRANSFECTION; X CHROMOSOME LINKED DISORDER; X LINKED ADRENAL HYPOPLASIA CONGENITA;

ADRENAL HYPERPLASIA, CONGENITAL; BASE SEQUENCE; CELLS, CULTURED; CHILD; DAX-1 ORPHAN NUCLEAR RECEPTOR; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION REGULATION; GENETIC DISEASES, X-LINKED; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHOSPHOPROTEINS; TRANSFECTION; YOUNG ADULT;

EID: 80054968113     PISSN: 00260495     EISSN: 15328600     Source Type: Journal    
DOI: 10.1016/j.metabol.2011.03.023     Document Type: Article

References (21)

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