A complex heterozygous mutation of His373Leu and Asp487–Ser488–Phe489 deletion in human cytochrome P450c17 causes 17α-hydroxylase/17,20-lyase deficiency in three Chinese sisters
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Molecular Biology,Biochemistry
Cited by 35 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Reproductive endocrine characteristics and in vitro fertilization treatment of female patients with partial 17α-hydroxylase deficiency: Two pedigree investigations and a literature review;Frontiers in Endocrinology;2022-09-14
2. Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation;Annals of Pediatric Endocrinology & Metabolism;2021-03-31
3. A rare intronic mutation in the splice acceptor site of the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency;Gynecological Endocrinology;2020-09-18
4. Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency;Endocrinology and Metabolism;2018
5. Clinical and molecular manifestation of fifteen 17OHD patients: a novel mutation and a founder effect;Endocrine;2016-05-05
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