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

Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17alpha-hydroxylase/17,20-lyase deficiency.

Clinical endocrinology - 1 Mar 2010

Qiao Jie, Chen Xia, Zuo Chun-Lin, Gu Yan-Yun, Liu Bing-Li, Liang Jun, Lu Ying-Li, Tang Jin-Feng, Wu Yi-Xin, Chen Ming-Dao, Chen Jia-Lun, Wu Wan-Ling, Song Huai-Dong

Abstract excerpt

OBJECTIVE: P450c17 deficiency (17alpha-hydroxylase/17,20-lyase deficiency, 17OHD) is a rare form of congenital adrenal hyperplasia caused by CYP17A1 gene mutations. The D487_F489 deletion in exon 8 and Y329fs in exon 6 are relatively frequent mutations of the CYP17A1 gene in China that completely abolish the enzyme activity of P450c17. However, little remains known about steroid biosynthetic functions in carriers...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Adrenal Hyperplasia, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Case-Control Studies

Share to DNA Mutational Analysis

Share to Hormones

Share to Pedigree

Share to Steroid 17-alpha-Hydroxylase

Share to Young Adult

Source

Identifiers

PMID: 19508587
DOI: 10.1111/j.1365-2265.2009.03607.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17alpha-hydroxylase/17,20-lyase deficiency.PMID 19508587Read ↗

The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series.Semantic proximity Read ↗

Clinical, Molecular, Functional, and Structural Characterization of CYP17A1 Mutations in Brazilian Patients with 17-Hydroxylase 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 ↗

A compound heterozygous mutation in the CYP17 (17alpha-hydroxylase/17,20-lyase) gene in a Chinese subject with congenital adrenal hyperplasia.Semantic proximity Read ↗

Disorders of steroid 17 alpha-hydroxylase deficiency.Semantic proximity Read ↗

Novel CYP17A1 variants and functional validation in a large Chinese cohort of complete 17α-hydroxylase deficiency.Semantic proximity Read ↗

Clinical and genetic analyses of a Chinese female with 17α-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 ↗

Identification of a homozygous c.1039C>T (p.R347C) variant in CYP17A1 in a 67-year-old female patient 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 ↗

Revealing a New Homozygous Variant in CYP17A1 c.908G>A (p. Gly303Asp) by Genotyping a Chinese Patient with 46, XY 17a-Hydroxylase/17,20-Lyase Deficiency and Adrenal Space-Occupying Lesion.Semantic proximity Read ↗

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