Results 171 to 179 of about 26,513 (179)
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Molecular Genetics and the Characterization of Steroid 21-Hydroxylase Deficiency
Endocrine Research, 1986Classical 21-hydroxylase deficiency congenital adrenal hyperplasia is a monogenic autosomal recessive disorder that has been conclusively shown by family HLA-typing studies to be in close genetic linkage with the human major histocompatibility complex.
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Analysis of steroid 21-hydroxylase gene mutations in the Spanish population
Human Genetics, 1995Steroid 21-hydroxylase deficiency is the major cause of congenital adrenal hyperplasia. Genotyping for deletions and nine point mutations in the CYP21 gene has been performed in 38 Spanish patients and their relatives by Southern blot analysis and allele-specific oligonucleotide hybridization.
B, Ezquieta +3 more
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MICROSATELLITE MARKERS IN THE INDIRECT ANALYSIS OF THE STEROID 21-HYDROXYLASE GENE
Prenatal Diagnosis, 1997Prenatal diagnosis and treatment of congenital adrenal hyperplasia due to steroid 21-hydroxylase (21-OH) deficiency has been proved to be effective. Screening for a panel of nine point mutations, deletions, and gene conversions allows the identification of most of the mutations, although 6.12 per cent of chromosomes remain uncharacterized.
B, Ezquieta +4 more
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Steroid 21-hydroxylase deficiency
Current Opinion in Pediatrics, 1989Perrin C. White +2 more
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Gene conversion in steroid 21-hydroxylase genes.
American journal of human genetics, 1990The steroid 21-hydroxylase gene, CYP21B, encodes cytochrome P450c21, which mediates 21-hydroxylation. The gene is located about 30 kb downstream from pseudogene CYP21A. The CYP21A gene is homologous to the CYP21B gene but contains some mutations, including a C----T change which leads a termination codon, TAG, in the eighth exon.
K, Urabe +4 more
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Molecular Genetics of Steroid 21-Hydroxylase Deficiency
1994Maria I. New, Christopher Crawford
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