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

✍ Scribed by Long-Shyong Lee; Wei-Jane Shu; Chen-Ming Wu; Chia-Hsing Hsieh; Su-Mei Chen; Chaur-Jong Hu; Wei-Yi Chen; Bon-chu Chung

• Book ID: 116733916
• Publisher: Elsevier Science
• Year: 2006
• Tongue: English
• Weight: 134 KB
• Volume: 249
• Category: Article
• ISSN: 0303-7207
• DOI: 10.1016/j.mce.2006.01.003