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Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.

Steroid 21-hydroxylase deficiency is caused by mutations in the CYP21B gene. This gene and a highly homologous pseudogene, CYP21A, alternate with the C4A and C4B genes encoding the fourth component of complement. Classical deficiency alleles are frequently caused by deletions of CYP21B or by gene co...

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Dettagli Bibliografici
Pubblicato in:Proc Natl Acad Sci U S A
Autori principali: White, P C, Vitek, A, Dupont, B, New, M I
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 1988
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Accesso online:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC280444/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3260033/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.85.12.4436
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