Novel mutations of CYP27B1 gene lead to reduced activity of 1α-hydroxylase in Chinese patients

Cloning of Human 25-Hydroxyvitamin D-1α-Hydroxylase and Mutations Causing Vitamin D-Dependent Rickets Type 1

Glenn K. Fu, Dong Lin, Martin Y. H. Zhang et al. · Molecular Endocrinology · 1997 · 400 citations

Medicine, Biochemistry, Molecular Biology +17

Inactivating Mutations in the 25-Hydroxyvitamin D₃1α-Hydroxylase Gene in Patients with Pseudovitamin D–Deficiency Rickets

Sachiko Kitanaka, Ken‐ichi Takeyama, Akiko Murayama et al. · New England Journal of Medicine · 1998 · 382 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Genetics of Vitamin D 1α-Hydroxylase Deficiency in 17 Families

Jonathan T. Wang, Chin-Jia Lin, Sandra M. Burridge et al. · The American Journal of Human Genetics · 1998 · 200 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Molecular cloning of cDNA for vitamin D₃ 25‐hydroxylase from rat liver mitochondria

Emiko Usui, Mitsuhide Noshiro, Kyuichiro Okuda · FEBS Letters · 1990 · 125 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +15

A cDNA Encoding a Rat Mitochondrial Cytochrome P450 Catalyzing Both the 26-Hydroxylation of Cholesterol and 25-Hydroxylation of Vitamin D ₃ : Gonadotropic Regulation of the Cognate mRNA in Ovaries

Ping Su, Hannah Rennert, Rass M. Shayiq et al. · DNA and Cell Biology · 1990 · 121 citations

Life Sciences, Genetics, Molecular Biology +10