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

Mutation survey of known LCA genes and loci in the Saudi Arabian population.

Investigative ophthalmology & visual science - 1 Mar 2009

Li Yumei, Wang Hui, Peng Jianlan, Gibbs Richard A, Lewis Richard Alan, Lupski James R, Mardon Graeme, Chen Rui

Abstract excerpt

PURPOSE: The purpose of this study was to perform a comprehensive survey of all known Leber congenital amaurosis (LCA) genes and loci in a collection of 37 consanguineous LCA families from Saudi Arabia. METHODS: Direct PCR and sequencing were used to screen 13 known LCA genes (GUCY2D, CRX, RPE65, TULP1, AIPL1, CRB1, RPGRIP1, LRAT, RDH12, IMPDH1, CEP290, RD3, LCA5). In addition, families without mutations...

Read the complete abstract on PubMed

Topics

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

Share to Blindness
Share to cis-trans-Isomerases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Consanguinity

Share to Eye Proteins

Share to Guanylate Cyclase

Share to Retinal Degeneration

Share to Saudi Arabia

Source

Open in PubMed Open full text

Identifiers

PMID: 18936139
DOI: 10.1167/iovs.08-2589
PMCID: PMC2695987

Genes

CRB1
RPE65
TULP1
AIPL1
CRX
IMPDH1
LCA5
LRAT
RDH12
RPGRIP1

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

Mutation survey of known LCA genes and loci in the Saudi Arabian population.PMID 18936139Read ↗

Leber congenital amaurosis: a genetic paradigm.Semantic proximity Read ↗

[From gene to disease; Leber congenital amaurosis (LCA)].Semantic proximity Read ↗

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.Semantic proximity Read ↗

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.Semantic proximity Read ↗

Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.Semantic proximity Read ↗

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).Semantic proximity Read ↗

Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.Semantic proximity Read ↗

Leber congenital amaurosis: first genotyped Hungarian patients and report of 2 novel mutations in the CRB1 and CEP290 genes.Semantic proximity Read ↗

Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center.Semantic proximity Read ↗

Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son.Semantic proximity Read ↗

Phenotypic and Genetic Heterogeneity of a Pakistani Cohort of 15 Consanguineous Families Segregating Variants in Leber Congenital Amaurosis-Associated Genes.Semantic proximity Read ↗

Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.Semantic proximity Read ↗

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