Associated Papers
Identification of a novel large CYP17A1 deletion by MLPA analysis in a family with classic 17α-hydroxylase deficiency.
Turkkahraman D et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2015
Phenotypic variation in a Chinese family with 46,XY and 46,XX 17α-hydroxylase deficiency.
Bee YM et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2012
Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase/17,20-lyase deficiency.
Tian Q et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2012
A novel compound heterozygous mutation of K494_V495 deletion plus R496L and D487_F489 deletion in extreme C-terminus of cytochrome P450c17 causes 17alpha-hydroxylase deficiency.
Lee LS et al.
Molecular and Cellular Endocrinology, 2006
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