Novel point mutations in complete androgen insensitivity syndrome with incomplete müllerian regression: Two Taiwanese patients

European Journal of Pediatrics

Volumn 162, Issue 11, 2003, Pages 781-784

  Van, Yang Hau ^a   Lin, Ju Li ^a   Huang, Shiu Feng ^a   Luo, Chih Cheng ^a   Hwang, Chen Sheng ^a   Lo, Fu Sung ^a  

^a CHANG GUNG CHILDREN S HOSPITAL   (Taiwan)

Author keywords

Androgen insensitivity syndrome; Androgen receptor; Complete androgen insensitivity syndrome; Partial androgen insensitivity syndrome; Testicular feminisation

Indexed keywords

ANDROGEN RECEPTOR; LYSINE; METHIONINE; THREONINE;

AMINO ACID SUBSTITUTION; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; CASE REPORT; CHILD; CODON; CONGENITAL MALFORMATION; DNA SEQUENCE; EXON; FEMALE; GENETICS; GONADECTOMY; HERNIOPLASTY; HUMAN; IMMUNOHISTOCHEMISTRY; INFANT; INGUINAL HERNIA; MALE; METHODOLOGY; MISSENSE MUTATION; MUELLERIAN DUCT; NEEDLE BIOPSY; PATHOLOGY; POINT MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; RECEPTOR GENE; RISK ASSESSMENT; STOP CODON; TAIWAN; VIRILIZATION; X CHROMOSOME LINKED DISORDER;

ANDROGEN-INSENSITIVITY SYNDROME; BIOPSY, NEEDLE; CHILD, PRESCHOOL; CODON, NONSENSE; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; MALE; MULLERIAN DUCTS; POINT MUTATION; POLYMERASE CHAIN REACTION; PROGNOSIS; RECEPTORS, ANDROGEN; RISK ASSESSMENT; SEQUENCE ANALYSIS, DNA;

EID: 0242404297     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-003-1301-0     Document Type: Article

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