Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products.

Four steroid 21-hydroxylase B [P-450(C21)B] genes (designated P.7, P.10-1, P.10-2, and P.3) from three P-450(C21)-deficient patients were isolated to analyze their structures and functions. Several base changes were observed in the sequences of the four P-450(C21)B genes as compared to that of the f...

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Hlavní autoři: Higashi, Y, Tanae, A, Inoue, H, Hiromasa, T, Fujii-Kuriyama, Y
Médium: Artigo
Jazyk:Inglês
Vydáno: 1988
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC282216/
https://ncbi.nlm.nih.gov/pubmed/2845408
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