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

Molecular genetic analysis of macular corneal dystrophy patients from North India.

Ophthalmic research - 1 Jan 2012

Paliwal Preeti, Sharma Arundhati, Tandon Radhika, Sharma Namrata, Titiyal Jeevan S, Sen Seema, Vajpayee Rasik B

Abstract excerpt

PURPOSE: To identify underlying genetic defects in the carbohydrate sulfotransferase-6 (CHST6) gene in North Indian patients with macular corneal dystrophy (MCD). METHODS: 30 clinically diagnosed MCD patients from 21 families and 50 healthy normal controls were recruited in the study. Detailed clinical evaluation in the patients was undertaken followed by histopathology and ultrastructural studies in corneal...

Read the complete abstract on PubMed

Topics

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

Share to Corneal Dystrophies, Hereditary
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Molecular Biology

Share to Polymerase Chain Reaction

Share to Sulfotransferases

Share to Visual Acuity

Share to Young Adult

Source

Identifiers

PMID: 22261655
DOI: 10.1159/000334911

Genes

CHST6

Variants

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

Molecular genetic analysis of macular corneal dystrophy patients from North India.PMID 22261655Read ↗

Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India.Semantic proximity Read ↗

Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India.Semantic proximity Read ↗

Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy.Semantic proximity Read ↗

CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review.Semantic proximity Read ↗

Molecular genetic study of Egyptian patients with macular corneal dystrophy.Semantic proximity Read ↗

Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations.Semantic proximity Read ↗

CHST6 mutations identified in Iranian MCD patients and CHST6 mutations reported worldwide identify targets for gene editing approaches including the CRISPR/Cas system.Semantic proximity Read ↗

Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.Semantic proximity Read ↗

Genetic implications of CHST6 gene mutations and their corneal microstructural changes in macular corneal dystrophy patients.Semantic proximity Read ↗

Mutation analysis of CHST6 gene in Chinese patients with macular corneal dystrophy.Semantic proximity Read ↗

Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland.Semantic proximity Read ↗

Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy.Semantic proximity Read ↗

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