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

[Detection of R277Q mutation of SRD5alpha2 gene by amplification refractory mutation system].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 1999

Guang W, Zhou L, Zeng R, Du C

Abstract excerpt

OBJECTIVE: To set up a simple method for identifying the mutation of R227Q of SRD5alpha2 gene which is one of the most common mutations in congenital hypospadias in China. METHODS: The amplification refractory mutation system(ARMS) was employed in detecting the SRD5alpha2 gene R227Q mutation in congenital hypospadias confirmed by PCR-SSCP and DNA sequencing. RESULTS: The ARMS was successfully applied to the...

Read the complete abstract on PubMed

Topics

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

Share to 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
Share to Hypospadias

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Mutation

Source

Identifiers

PMID: 10581352

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

[Detection of R277Q mutation of SRD5alpha2 gene by amplification refractory mutation system].PMID 10581352Read ↗

[Mutation analysis of SRD5A2 gene in patients with hypospadias].Semantic proximity Read ↗

[Karyotyping and analysis of 5α -reductase-2 gene mutation in 25 patients with hypospadias].Semantic proximity Read ↗

[Variant analysis on steroid 5-reductase type 2 deficiency caused by a novel SRD5A2 mutation].Semantic proximity Read ↗

[Identification of mutations of SRD5A2 gene and SRY gene in patients with hypospadias].Semantic proximity Read ↗

Association of SRD5A2 gene mutations with risk of hypospadias in the Iranian population.Semantic proximity Read ↗

[Identification of a novel variant of SRD5A2 gene in a child featuring steroid 5α-reductase type 2 deficiency].Semantic proximity Read ↗

Mutation analysis of the SRD5A2, AR and SF-1 genes in 52 Chinese boys with hypospadias.Semantic proximity Read ↗

Two novel mutations of SRD5A2 gene in Indonesian siblings with clinical 5-alpha-reductase deficiency.Semantic proximity Read ↗

[Detection of a new mutation (G1253T) of iduronate-2-sulfatase gene for the patient with mucopolysaccharidosis type II].Semantic proximity Read ↗

[Avoiding the interference of ABCD1 pseudogenes in the molecular diagnosis of X-linked adrenoleukodystrophy by double amplification refractory mutation system].Semantic proximity Read ↗

[Detection of three common G6PD gene point mutations in Guangdong province by using ARMS].Semantic proximity Read ↗

[46,XY female sex reversal patient with a novel point mutation in the coding sequence of the SRY gene].Semantic proximity Read ↗

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