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

Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations.

Cornea - 1 Aug 2003

Ha Nguyen Thanh, Chau Hoang Minh, Cung Le Xuan, Thanh Ton Kim, Fujiki Keiko, Murakami Akira, Hiratsuka Yoshimune, Hasegawa Nobuko, Kanai Atsushi

Abstract excerpt

PURPOSE: To report the clinical and genetic findings of Vietnamese families affected with macular corneal dystrophy (MCD) in 2 generations. METHODS: Two families, including 7 patients and 3 unaffected members, were examined clinically. Blood samples were collected. Fifty normal Vietnamese individuals were used as controls. Genomic DNA was extracted from leukocytes. Analysis of the carbohydrate sulfotransferase...

Read the complete abstract on PubMed

Topics

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

Share to Arginine
Share to Codon, Terminator

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Corneal Dystrophies, Hereditary

Share to Frameshift Mutation

Share to Glutamine

Share to Heterozygote

Share to Sulfotransferases

Share to Vietnam

Source

Identifiers

PMID: 12883341
DOI: 10.1097/00003226-200308000-00004

Genes

CHST6

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

Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations.PMID 12883341Read ↗

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

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

Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy.Semantic proximity Read ↗

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

Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6.Semantic proximity Read ↗

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

Molecular genetic analysis of macular corneal dystrophy patients from North India.Semantic proximity Read ↗

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

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

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

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

[Novel CHST6 compound heterozygous mutations cause macular corneal dystrophy in a Chinese family].Semantic proximity Read ↗

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