Novel mutations in the XLRS1 gene may be caused by early Okazaki fragment sequence replacement.

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Article

Novel mutations in the XLRS1 gene may be caused by early Okazaki fragment sequence replacement.

Investigative ophthalmology & visual science - 1 Aug 1998

Rodriguez I R, Mazuruk K, Jaworski C, Iwata F, Moreira E F, Kaiser-Kupfer M I

Abstract excerpt

PURPOSE: To determine whether two families diagnosed with X-linked retinoschisis contained mutations in the XLRS1 gene. METHODS: DNA from the patients was obtained from blood lymphocytes using commercially available kits. Single-strand conformation assay was performed in an electrophoresis appara...

Topics

Adult
Base Sequence
Child
DNA
DNA Mutational Analysis
Electrophoresis, Polyacrylamide Gel
Exons
Eye Proteins
Female
Genetic Linkage
Humans
Infant, Newborn
Male
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational

Source

Open in PubMed

Identifiers

PMID: 9699564

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9699564-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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