17α-hydroxylase/17,20 carbon chain lyase deficiency caused by p.Tyr329fs homozygous mutation: Three case reports.

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作者： Dai,Zhang ^[1] ; Jian-Ran,Sun ^[1] ; Jiang,Xu ^[1] ; Yan,Xing ^[2] ; Mao,Zheng ^[1] ; Shan-Dong,Ye ^[1] ; Jie,Zhu ^[3]

作者单位： Department of Endocrinology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230001, Anhui Province, China. ^[1] Department of Endocrinology, Endocrinology Laboratory of the First Affiliated Hospital of USTC, Hefei 230001, Anhui Province, China. ^[2] Department of Endocrinology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230001, Anhui Province, China. jiezhuaph@gmail.com. ^[3]

关键词 17-α-hydroxylase-17,20-lyase deficiency Case report Cytochrome P450c17 Mutation Phenotype

DOI 10.12998/wjcc.v9.i8.1923

PMID 33748243

发布时间 2021-03-23

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World journal of clinical cases

2021年9卷8期

1923-1930页

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17α-hydroxylase/17,20 carbon chain lyase deficiency caused by p.Tyr329fs homozygous mutation: Three case reports.

World journal of clinical cases

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World journal of clinical cases

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17α-hydroxylase/17,20 carbon chain lyase deficiency caused by p.Tyr329fs homozygous mutation: Three case reports.

World journal of clinical cases

相似文献

World journal of clinical cases

相关期刊

检索历史清除