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

Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.

Molecular vision - 9 Aug 2010

Renugadevi Kathirvel, Sil Asim Kumar, Perumalsamy Vijayalakshmi, Sundaresan Periasamy

Abstract excerpt

PURPOSE: Albinism is a group of genetic disorders, showing a broad spectrum of different phenotypes. The purpose of this study was to screen known candidate genes for oculocutaneous albinism (OCA) and ocular albinism (OA) mutations in Indian patients. METHODS: Blood samples were collected from 23 probands and 13 affected family members from 23 genetically unrelated Indian families (22 diagnosed as OCA and 1...

Read the complete abstract on PubMed

Topics

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

Share to Albinism, Ocular
Share to Albinism, Oculocutaneous

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Child, Preschool

Share to DNA Mutational Analysis

Share to Family

Share to Infant

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 20806075
PMCID: PMC2925902

Genes

TYR
OCA2
TYRP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.PMID 20806075Read ↗

Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings.Semantic proximity Read ↗

Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene.Semantic proximity Read ↗

The molecular landscape of oculocutaneous albinism in India and its therapeutic implications.Semantic proximity Read ↗

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

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

Identifying genetic defects in oculocutaneous albinism patients of West Bengal, Eastern India.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 ↗

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

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

DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.Semantic proximity Read ↗

Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.Semantic proximity Read ↗

Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.Semantic proximity Read ↗

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