Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families.

Vitamin D-dependent rickets type I (VDDR-I), also known as pseudo-vitamin D-deficiency rickets, appears to result from deficiency of renal vitamin D 1alpha-hydroxylase activity. Prior work has shown that the affected gene lies on 12q13.3. We recently cloned the cDNA and gene for this enzyme, mitocho...

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Библиографические подробности
Главные авторы: Wang, J T, Lin, C J, Burridge, S M, Fu, G K, Labuda, M, Portale, A A, Miller, W L
Формат: Artigo
Язык:Inglês
Опубликовано: 1998
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377641/
https://ncbi.nlm.nih.gov/pubmed/9837822
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