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

Novel OCRL1 gene mutations in six Chinese families with Lowe syndrome.

World journal of pediatrics : WJP - 1 Nov 2016

Gao Yan, Jiang Fang, Ou Zhi-Ying

Abstract excerpt

BACKGROUND: Lowe syndrome, an X-linked, inheritable disease with clinical symptoms of congenital cataracts, incomplete Fanconi syndrome, and mental retardation, has an approximate incidence of 1 in 500 000. Nearly 200 OCRL mutations related to Lowe syndrome have been found worldwide, with only ten mutations among the Chinese population. Since more mutations may exist in Chinese patients, we sequenced and analyzed...

Read the complete abstract on PubMed

Topics

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

Share to Gene Amplification
Share to Incidence
Share to Oculocerebrorenal Syndrome

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Phosphoric Monoester Hydrolases

Share to Point Mutation

Share to Real-Time Polymerase Chain Reaction

Share to Reference Values

Share to Sampling Studies

Source

Identifiers

PMID: 27059748
DOI: 10.1007/s12519-016-0017-y

Genes

OCRL

Variants

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel OCRL1 gene mutations in six Chinese families with Lowe syndrome.PMID 27059748Read ↗

Novel OCRL mutations in Chinese children with Lowe syndrome.Semantic proximity Read ↗

Novel mutation of OCRL1 in Lowe syndrome.Semantic proximity Read ↗

[Analysis of OCRL gene variant in a Chinese pedigree affected with Lowe syndrome].Semantic proximity Read ↗

Two cases of Lowe syndrome caused by a novel mutation in OCRL gene in a familySemantic proximity Read ↗

Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.Semantic proximity Read ↗

Atypical phenotypes and novel OCRL variations in Southern Chinese patients with Lowe syndromeSemantic proximity Read ↗

Identification of OCRL1 mutations in two Taiwanese Lowe syndrome patients.Semantic proximity Read ↗

Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.Semantic proximity Read ↗

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.Semantic proximity Read ↗

[Analysis of OCRL gene mutation in a male infant with Lowe syndrome].Semantic proximity Read ↗

A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndrome.Semantic proximity Read ↗

Physical mapping and genomic structure of the Lowe syndrome gene OCRL1Semantic proximity Read ↗

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