Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Study on the genetic mutations of 17 alpha-hydroxylase/17,20-lyase deficiency in Chinese patients.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2006

Tao Hong, Lu Zhao-lin, Zhang Bo, Mi Shu-hua, Wang Nan-ye, Wang Xi-zhi, Wu Jin

Abstract excerpt

OBJECTIVE: To investigate the CYP17A1 gene mutations in Chinese patients with 17 alpha-hydroxylase/17, 20-lyase deficiency. METHODS: Clinical data were retrospectively analyzed. The CYP17A1 gene mutations were detected in 5 cases with 17 alpha-hydroxylase/17, 20-lyase deficiency and their relatives. The genomic DNA of the patients was isolated from whole blood. Seven pairs of primers were used to amplify eight...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adrenal Hyperplasia, Congenital
Share to Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to DNA Primers

Share to Point Mutation

Share to Steroid 17-alpha-Hydroxylase

Source

Identifiers

PMID: 16604478

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Study on the genetic mutations of 17 alpha-hydroxylase/17,20-lyase deficiency in Chinese patients.PMID 16604478Read ↗

Novel CYP17A1 mutation in a Japanese patient with combined 17alpha-hydroxylase/17,20-lyase deficiency.Semantic proximity Read ↗

[New compound heterozygous mutation causes partial combined 17 alpha-hydroxylase/17,20-lyase deficiency].Semantic proximity Read ↗

Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase/17,20-lyase deficiency.Semantic proximity Read ↗

[Clinical and molecular genetic analysis for 7 patients from 5 pedigrees with 17a-hydroxylase/17, 20 lyase deficiency].Semantic proximity Read ↗

CYP17A1 mutations identified in 17 Chinese patients with 17α-hydroxylase/17,20-lyase deficiency.Semantic proximity Read ↗

[A compound heterozygous mutation in CYP17A1 gene in a female subject with partial 17α-hydroxylase/17, 20 lyase deficiency].Semantic proximity Read ↗

New, recurrent, and prevalent mutations: Clinical and molecular characterization of 26 Chinese patients with 17alpha-hydroxylase/17,20-lyase deficiency.Semantic proximity Read ↗

A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.Semantic proximity Read ↗

[Clinical and genetic analysis of a patient with 17-hydroxylase/17,20-lyase deficiency].Semantic proximity Read ↗

Clinical and genetic analyses of a Chinese female with 17α-hydroxylase/17,20-lyase deficiency.Semantic proximity Read ↗

A complex heterozygous mutation of His373Leu and Asp487-Ser488-Phe489 deletion in human cytochrome P450c17 causes 17alpha-hydroxylase/17,20-lyase deficiency in three Chinese sisters.Semantic proximity Read ↗

A novel compound heterozygous mutation in the CYP17 (P450 17alpha-hydroxylase) gene leading to 17alpha-hydroxylase/17,20-lyase deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.