Mutations in the gene encoding 21-hydroxylase detected by solid-phase minisequencing

Human Genetics

Volumn 99, Issue 1, 1996, Pages 98-102

  Ohlsson, Gita ^a   Schwartz, Marianne ^a  

^a Rigshospitalet   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

DEOXYRIBONUCLEOTIDE; PRIMER DNA; STEROID 21 MONOOXYGENASE; STREPTAVIDIN; TRITIUM;

ADRENAL HYPERPLASIA; ARTICLE; CLINICAL ARTICLE; DNA DENATURATION; DNA SEQUENCE; GENETIC ANALYSIS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; ISOTOPE LABELING; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

TRITIUM;

EID: 0031060655     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050319     Document Type: Article

References (15)

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2. Mornet E, Crete P, Kuttenn F, Raux-Demay MC, Boue J, White PC, Boue A (1991) Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency. Am J Hum Genet 48:79-88
3. Owerbach D, Crawford YM, Draznin MB (1990) Direct analysis of CYP21B genes in 21-hydroxylase deficiency using polymerase chain reaction amplification. Mol Endocrinol 4:125-131
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12. White PC (1994) Genetic diseases of steroid metabolism. Vitam Horm 49:131-195
13. White PC, Grossberger D, Onufer BJ, Chaplin DD, New MI, Dupont B, Strominger JL (1985) Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man. Proc Natl Acad Sci USA 82:1089-1093
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