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

Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.

Journal of dermatological science - 1 May 2011

Wei Aihua, Yang Xiumin, Lian Shi, Li Wei

Abstract excerpt

BACKGROUND: Oculocutaneous albinism (OCA) is a relatively common inherited disorder in all populations worldwide. The mutational spectra of OCA are population-specific. OBJECTIVE: Based on our previous molecular epidemiological studies, we have implemented an optimized strategy for the genetic testing of Chinese OCA patients. METHODS: Genomic DNA was extracted from the blood samples of 52 clinically diagnosed OCA...

Read the complete abstract on PubMed

Topics

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

Share to Albinism, Oculocutaneous
Share to Child, Preschool
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Genetic Testing

Share to Infant

Share to Infant, Newborn

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 21458243
DOI: 10.1016/j.jdermsci.2011.02.009

Genes

HPS1
OCA2
TYR
TYRP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.PMID 21458243Read ↗

A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.Semantic proximity Read ↗

Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism.Semantic proximity Read ↗

Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing.Semantic proximity Read ↗

Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.Semantic proximity Read ↗

Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism.Semantic proximity Read ↗

Genetic analyses of Chinese patients with digenic oculocutaneous albinism.Semantic proximity Read ↗

A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.Semantic proximity Read ↗

Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutationsSemantic proximity Read ↗

Genetic analyses of Vietnamese patients with oculocutaneous albinism.Semantic proximity Read ↗

Molecular analysis of Korean patients with oculocutaneous albinism.Semantic proximity Read ↗

[Spectrum of pathological genetic variants among 405 Chinese pedigrees affected with oculocutaneous albinism].Semantic proximity Read ↗

Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients.Semantic proximity Read ↗

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