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

[Prenatal genetic diagnosis of oculocutaneous albinism type II through mutation detection combined with SNPs linkage analysis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2014

Chen Xiaofei, Wei Haiyun, Zhou Yi, Zheng Hui, Fang Qun, Jiang Weiying, Li Hongyi

Abstract excerpt

OBJECTIVE: To provide prenatal diagnosis for two families affected with oculocutaneous albinism (OCA), in both of which only 1 pathogenic allele has been identified. METHODS: To determine the clinical classification of OCA through DNA sequencing for TYR, P, TYRP1 and SLC45A2 genes in combination with phenotype analysis. Prenatal diagnosis was carried out by direct sequencing and intragenic SNPs family-based...

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 OCA2 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to TYR gene

Share to TYRP1 gene

Share to Genetic Linkage

Share to Mutation

Share to Polymorphism, Single Nucleotide

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 24711019
DOI: 10.3760/cma.j.issn.1003-9406.2014.02.003

Genes

OCA2
TYR
TYRP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Prenatal genetic diagnosis of oculocutaneous albinism type II through mutation detection combined with SNPs linkage analysis].PMID 24711019Read ↗

[Prenatal diagnosis of oculocutaneous albinism type II and discovery of two novel mutations].Semantic proximity Read ↗

[Genetic testing and prenatal diagnosis for thirteen Chinese pedigrees affected with oculocutaneous albinism].Semantic proximity Read ↗

[Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ].Semantic proximity Read ↗

[A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis].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 ↗

[Early prenatal genetic diagnosis of oculocutaneous albinism type I in seven families].Semantic proximity Read ↗

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

[Prenatal diagnosis of oculocutaneous albinism type IV and discovery of a novel mutation].Semantic proximity Read ↗

[Prenatal gene diagnosis of oculocutaneous albinism type I].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 ↗

Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.Semantic proximity Read ↗

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