Open AccessA Novel G102E Mutation of CYP27B1 in a Large Family with Vitamin D-Dependent Rickets Type 1
Author(s) -
Ali S. Alzahrani,
Minjing Zou,
Essa Y. Baitei,
Omalkhaire M. Alshaikh,
Roua A. AlRijjal,
Brian F. Meyer,
Yufei Shi
Publication year - 2010
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2009-2278
Subject(s) - rickets , vitamin d and neurology , mutation , type (biology) , medicine , endocrinology , biology , genetics , gene , ecology
Mutations in the CYP27B1 gene, which encodes vitamin D 1alpha-hydroxylase, are the genetic basis for vitamin D-dependent rickets type 1 (VDDR-I).
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