A novel homozygous mutation IVS6+5G>T in CYP11B1 gene in a Vietnamese patient with 11β-hydroxylase deficiency.

doi:10.1016/j.gene.2015.04.052

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Article

A novel homozygous mutation IVS6+5G>T in CYP11B1 gene in a Vietnamese patient with 11β-hydroxylase deficiency.

Gene - 10 Jul 2015

Nguyen Thi Phuong Mai, Nguyen Thu Hien, Ngo Diem Ngoc, Vu Chi Dung, Nguyen Thi Kim Lien, Nong Van Hai, Nguyen Huy Hoang

Abstract excerpt

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease which is characterized by a deficiency of one of the enzymes involved in the synthesis of cortisol from cholesterol by the adrenal cortex. CAH cases arising from impaired 11β-hydroxylase are the second most common form. Mutati...

Topics

Adrenal Hyperplasia, Congenital
Asian People
Guanine
Homozygote
Humans
Introns
Male
Mutation
Steroid 11-beta-Hydroxylase
Thymine

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