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Article

[Analysis of OCRL gene mutation in a male infant with Lowe syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2014

Chen Suqin, Zhang Xinyu, Chen Luming, Tian Qiuhong, Jiang Weiying

Abstract excerpt

OBJECTIVE: To identify pathological mutation in a Chinese male infant featuring oculocerebrorenal syndrome (also called Lowe syndrome). METHODS: Clinical data of the patient were collected. DNA was extracted from peripheral blood of the infant and his parents. All of the 24 exons and intron-exon splice sites of OCRL gene were amplified with PCR. Mutations were detected by direct sequencing the PCR products....

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Source

Identifiers

PMID: 24711037
DOI: 10.3760/cma.j.issn.1003-9406.2014.02.021

Genes

OCRL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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