[Identification of AIPL1 gene variants in two Chinese families with Cone-rod dystrophy].

doi:10.3760/cma.j.issn.1003-9406.2019.11.006

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Article

[Identification of AIPL1 gene variants in two Chinese families with Cone-rod dystrophy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2019

Wang Liming, Hao Peng, Ying Ming, Han Ruifang, Wang Yuchuan, Gao Juan, Yuan Xiaoyong, Li Xuan

Abstract excerpt

OBJECTIVE: To detect pathogenic gene variants in two Chinese families with cone-rod dystrophy(CORD). METHODS: After the informed consent and comprehensive ophthalmic examinations for the patients, 3 mL peripheral blood was taken from the patients' blood vessel and DNA was extracted. The DNA was sequenced by whole-exome sequencing technology and variants were analyzed. RESULTS: Two novel compound heterozygous...

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PMID: 31703130
DOI: 10.3760/cma.j.issn.1003-9406.2019.11.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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