Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency.

doi:10.1007/BF02272841

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Article

Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency.

Human genetics - 1 Jul 1994

Wedell A, Stengler B, Luthman H

Abstract excerpt

We have defined the mutations causing congenital adrenal hyperplasia in three Swedish patients carrying a rare haplotype containing two mutated steroid 21-hydroxylase genes (CYP21) in addition to one pseudogene (CYP21P). The presence of such haplotypes complicates genetic diagnosis and screening...

Topics

Adrenal Hyperplasia, Congenital
Base Sequence
Child
DNA Primers
Female
Haplotypes
Humans
Male
Molecular Sequence Data
Multigene Family
Mutation
Pedigree
Pseudogenes

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