Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism.

Tajima, T; Fujieda, K; Nakayama, K; Fujii-Kuriyama, Y

Tajima, T; Fujieda, K; Nakayama, K; Fujii-Kuriyama, Y.

Affiliation

Tajima T; Department of Chemistry, Faculty of Science, Tohoku University, Sendai, Japan.

J Clin Invest ; 92(5): 2182-90, 1993 Nov.

Article in En | MEDLINE | ID: mdl-8227333

Subject(s)

Adrenal Hyperplasia, Congenital; Adrenal Hyperplasia, Congenital/diagnosis; Adrenal Hyperplasia, Congenital/genetics; Point Mutation; Steroid 21-Hydroxylase/genetics; Adrenal Hyperplasia, Congenital/enzymology; Alleles; Base Sequence; DNA Primers; Exons/genetics; Female; Heterozygote; Humans; Introns/genetics; Male; Molecular Sequence Data; Mutagenesis; Nucleic Acid Conformation; Pedigree; Polymerase Chain Reaction/methods; Pseudogenes; Sequence Analysis, DNA

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Steroid 21-Hydroxylase / Point Mutation / Adrenal Hyperplasia, Congenital Limits: Female / Humans / Male Language: En Journal: J Clin Invest Year: 1993 Type: Article Affiliation country: Japan

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