A rare duplicated 21-hydroxylase haplotype and a de novo mutation: A family analysis

Journal of Clinical Endocrinology and Metabolism

Volumn 88, Issue 6, 2003, Pages 2794-2796

  Baumgartner Parzer, S M ^a   Nowotny, P ^a   Waldhausl W ^a   Vierhapper, H ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

STEROID 21 MONOOXYGENASE;

ADULT; ALLELE; ARTICLE; CASE REPORT; CHROMOSOME ABERRATION; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; DNA SPLICING; ENZYME DEFICIENCY; EXON; FAMILIAL DISEASE; FATHER; FEMALE; GENE DUPLICATION; GENE FUNCTION; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HUMAN; INHERITANCE; INTRON; LABORATORY TEST; MALE; MOTHER; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSEUDOGENE; SEQUENCE ANALYSIS; SOUTHERN BLOTTING; SWEDEN;

RAPHIA FRATER;

EID: 0038578270     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2002-021589     Document Type: Article

References (18)

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