A novel c.C2754 > T transition in the androgen receptor gene introduces the premature termination codon Q798X and results in a truncated form of the receptor

Gynecological Endocrinology

Volumn 19, Issue 4, 2004, Pages 178-181

  Ignacak, M ^a   Turek Plewa, J ^a   Limon, J ^b   Trzeciak, W H ^a  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b MEDICAL UNIVERSITY OF GDANSK   (Poland)

Author keywords

AR gene; c.C2754> T transition; CAIS; Q798X mutation; Truncated receptor

Indexed keywords

ANDROGEN RECEPTOR; ANGIOTENSIN 2 RECEPTOR;

ABDOMINAL TUMOR; ADULT; AMINO ACID SEQUENCE; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; CASE REPORT; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; GONAD; HUMAN; KARYOTYPE 46,XY; LIGAND BINDING; PRIORITY JOURNAL; PROTEIN DOMAIN; RECEPTOR GENE; SEQUENCE ANALYSIS; SERTOLI CELL TUMOR; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON; TRANSCRIPTION INITIATION;

ADENOMA; ADULT; BASE SEQUENCE; CODON, NONSENSE; FEMALE; HUMANS; OVARIAN NEOPLASMS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, ANDROGEN; SERTOLI CELL TUMOR;

EID: 12244272453     PISSN: 09513590     EISSN: None     Source Type: Journal    
DOI: 10.1080/09513590400012127     Document Type: Article

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