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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Wang, J T, Lin, C J, Burridge, S M, Fu, G K, Labuda, M, Portale, A A, Miller, W L
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1998
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377641/
https://ncbi.nlm.nih.gov/pubmed/9837822
Tagiau: Ychwanegu Tag
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