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Article

A novel FBN1 mutation in a Chinese family with isolated ectopia lentis.

Molecular vision - 1 Jan 2012

Yang Guoxing, Chu Meifang, Zhai Xinling, Zhao Jialiang

Abstract excerpt

PURPOSE: To identify the genetic defect in an autosomal dominant isolated ectopia lentis (EL) family. METHODS: Detailed family history and clinical data were collected from the family including sixteen patients with isolated EL. Blood samples of nine patients, one normal person and two unknown children's were collected. Genomic DNA was extracted from leukocytes of peripheral blood. Genotyping was performed by...

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Source

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Identifiers

PMID: 22539873
PMCID: PMC3335778

Genes

FBN1

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.

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