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

Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy.

American journal of ophthalmology - 1 Mar 2004

Tian Xin, Fujiki Keiko, Li Qin, Murakami Akira, Xie Peiying, Kanai Atsushi, Wang Wei, Liu Zuguo

Abstract excerpt

PURPOSE: To report the genetic findings in a Chinese patient diagnosed with gelatinous droplike corneal dystrophy (GDLD). DESIGN: Case report and experimental study. METHODS: Molecular genetic analysis was performed on the DNA extracted from peripheral leukocytes from a Chinese patient with GDLD and his unaffected parents. Fifty healthy, unrelated, Chinese participants were used as control subjects. The M1S1 gene...

Read the complete abstract on PubMed

Topics

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

Share to Antigens, Neoplasm
Share to CD3 Complex

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cell Adhesion Molecules

Share to Corneal Dystrophies, Hereditary

Share to DNA Mutational Analysis

Share to Epithelial Cell Adhesion Molecule

Share to Heterozygote

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 15013888
DOI: 10.1016/j.ajo.2003.08.008

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

Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy.PMID 15013888Read ↗

A novel mutation of M1S1 gene found in a Vietnamese patient with gelatinous droplike corneal dystrophy.Semantic proximity Read ↗

A novel mutation in the M1S1 gene responsible for gelatinous droplike corneal dystrophy.Semantic proximity Read ↗

Rapid detection of M1S1 mutations by the protein truncation test.Semantic proximity Read ↗

Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy.Semantic proximity Read ↗

Identification of the gene responsible for gelatinous drop-like corneal dystrophy.Semantic proximity Read ↗

Two brothers with gelatinous drop-like dystrophy at different stages of the disease: role of mutational analysis.Semantic proximity Read ↗

Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy.Semantic proximity Read ↗

[Current advances in gene diagnosis and therapy of gelatinous drop-like corneal dystrophy].Semantic proximity Read ↗

A spectrum of clinical manifestations of gelatinous drop-like corneal dystrophy in japan.Semantic proximity Read ↗

A novel missense mutation in a Japanese patient with gelatinous droplike corneal dystrophy.Semantic proximity Read ↗

Phenotypic investigation of cell junction-related proteins in gelatinous drop-like corneal dystrophy.Semantic proximity Read ↗

A novel TACSTD2 gene mutation in a Turkish family with a gelatinous drop-like corneal dystrophy.Semantic proximity Read ↗

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