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

Steroid 21-hydroxylase deficiency is a major cause of congenital adrenal hyperplasia and is caused by genetic impairment of this enzyme. Since approximately 80% of cases are caused by point mutations of the CYP21B (CYP21A2) gene, whereas the remaining 20% are due to deletion of this gene, we used th...

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Hlavní autoři: Tajima, T, Fujieda, K, Nakayama, K, Fujii-Kuriyama, Y
Médium: Artigo
Jazyk:Inglês
Vydáno: 1993
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC288397/
https://ncbi.nlm.nih.gov/pubmed/8227333
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