A novel compound heterozygous mutation of K494_V495 deletion plus R496L and D487_F489 deletion in extreme C-terminus of cytochrome P450c17 causes 17α-hydroxylase deficiency

Long Shyong Lee, Wei Jane Shu, Chen Ming Wu, Chia Hsing Hsieh, Su Mei Chen, Chaur Jong Hu, Wei Yi Chen, Bon chu Chung

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