A single-base substitution in exon 6 of the androgen receptor gene causing complete androgen insensitivity: The mutated receptor fails to transactivate but binds to DNA in vitro

Human Molecular Genetics

Volumn 2, Issue 11, 1993, Pages 1809-1812

  Adeyemo, Oyewole ^a   Kallio, Pekka J ^b   Palvimo, Jorma J ^b   Kontula, Kimmo ^b   Jänne, Oill A ^a,b  

^a ROCKEFELLER UNIVERSITY   (United States)

^b UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; ARGININE; COMPLEMENTARY DNA; GUANINE; METHIONINE; MUTANT PROTEIN; THYMINE;

ADULT; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; CASE REPORT; CODON; CONTROLLED STUDY; DNA BINDING; EXON; GENE INSERTION; GENE MUTATION; HORMONE BINDING; HUMAN; KARYOTYPE 46,XY; LIGAND BINDING; MALE; NUCLEIC ACID BASE SUBSTITUTION; PROTEIN SYNTHESIS; REPORTER GENE; STEROID BINDING;

ADULT; AMINO ACID SEQUENCE; ANIMAL; ARGININE; BASE SEQUENCE; CASE REPORT; CELL LINE; CLONING, MOLECULAR; CODON; DNA PRIMERS; DNA-BINDING PROTEINS; EXONS; FEMALE; HUMAN; KARYOTYPING; MALE; METHIONINE; MOLECULAR SEQUENCE DATA; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; RECEPTORS, ANDROGEN; RECOMBINANT PROTEINS; SEX DIFFERENTIATION DISORDERS; SUPPORT, NON-U.S. GOV'T; TRANSCRIPTION, GENETIC; TRANSFECTION; TRANSLATION, GENETIC;

EID: 0027484532     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/2.11.1809     Document Type: Article

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