Sporadic Reifenstein syndrome due to a de novo mutation (746Val→Met) of the androgen receptor

Clinical Pediatric Endocrinology

Volumn 5, Issue 1, 1996, Pages 1-9

  Imasaki, K ^a   Hasegawa, T ^a   Ishizaka, H ^a   Okabe, T ^a   Hasegawa, Y ^a   Takayanagi, R ^a   Nawata, H ^a  

^a KYUSHU UNIVERSITY   (Japan)

Author keywords

Androgen insensitivity syndrome; Androgen receptor; De novo mutation; Missense mutation; Reifenstein syndrome; Thermolability

Indexed keywords

ANDROGEN RECEPTOR; METHIONINE; MITOCHONDRIAL DNA; VALINE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; CASE REPORT; CELL CULTURE; CONTROLLED STUDY; DISSOCIATION CONSTANT; EXON; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PROTEIN DOMAIN; RECEPTOR BINDING; REIFENSTEIN SYNDROME; SKIN FIBROBLAST;

EID: 0030317767     PISSN: 09185739     EISSN: None     Source Type: Journal    
DOI: 10.1297/cpe.5.1     Document Type: Article

References (17)