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

Intragenic polymorphic missense mutations in the XLRS1 gene in families with juvenile X-linked retinoschisis.

Human genetics - 1 Jun 1999

Hiraoka M, Trese M T, Shastry B S

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Eye Diseases, Hereditary
Share to Eye Proteins
Share to Genetic Linkage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Pedigree

Share to Retinal Diseases

Share to X Chromosome

Source

Identifiers

PMID: 10453744
DOI: 10.1007/s004390050999

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Intragenic polymorphic missense mutations in the XLRS1 gene in families with juvenile X-linked retinoschisis.PMID 10453744Read ↗

A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis.Semantic proximity Read ↗

Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.Semantic proximity Read ↗

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.Semantic proximity Read ↗

Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis.Semantic proximity Read ↗

Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families.Semantic proximity Read ↗

Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.Semantic proximity Read ↗

Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online.Semantic proximity Read ↗

Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.Semantic proximity Read ↗

The genetic spectrum and clinical features of X-linked juvenile retinoschisis in Central China.Semantic proximity Read ↗

Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.Semantic proximity Read ↗

X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.Semantic proximity Read ↗

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