Results 261 to 270 of about 35,670 (271)
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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 Mutations Causing Steroid 21-hydroxylase Deficiency
Endocrine Research, 1989Steroid 21-hydroxylase deficiency is the most frequent cause of congenital adrenal hyperplasia, an inherited inability to synthesize cortisol. Mutations causing this disorder have been characterized by hybridization analysis of patient DNA samples using cDNA and oligonucleotide probes, and by cloning and sequencing of mutant 21-hydroxylase (CYP21B ...
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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.
Ricardo Gracia +4 more
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Characterization of a new splicing mutation in the steroid 21-hydroxylase gene
Russian Journal of Bioorganic Chemistry, 2011Novel mutation in CYP21A2 gene causing the steroid 21-hydroxylase deficiency - C to G substitution in 7-position ofintron 2 acceptor splice site (c.290-7C>G) was identified. The effect of the mutation on splicing was checked in the system of CYP21A minigene expression in the cultured mammalian cells.
Vladimir S. Prassolov +5 more
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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.
Antonio Oliver +3 more
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Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia)
The American Journal of Medicine, 1995Congenital adrenal hyperplasia, caused by any one of a number of inborn errors of steroidogenesis in which cortisol is not sufficiently produced by the adrenal cortex, is in most cases due to a deficiency of the enzyme steroid 21-hydroxylase. Classic 21-hydroxylase deficiency occurs in about 1 in 14,000 live births. In classic 21-hydroxylase deficiency,
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Steroid 21-hydroxylase deficiency
Current Opinion in Pediatrics, 1989Perrin C. White +2 more
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Polymorphism of the HLA-Linked Steroid 21-Hydroxylase Genes
1989Deficiency of the cytochrome P-450 steroid 21-hydroxylase (21-OHase), which causes congenital adrenal hyperplasia (CAH), is a monogenic autosomal recessive disorder that is linked to HLA (1). There are two 21-OHase genes in man, A and B, and they map to the HLA class III region ~ 3 kb 3’ to the complement genes C4A and C4B, respectively (2-4).
Gillian Rumsby +2 more
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The Genetics of Steroid 21-Hydroxylase Deficiency
The Endocrinologist, 2005openaire +2 more sources
Structure of the HLA-linked steroid 21-hydroxylase genes [PDF]
Biochemical Society Transactions, 1987 Michael C. Carroll +5 more
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