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Article

GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2017

Chen Xue, Sheng Xunlun, Zhuang Wenjuan, Sun Xiantao, Liu Guohua, Shi Xun, Huang Guofu, Mei Yan, Li Yingjie, Pan Xinyuan, Liu Yani, Li Zili, Zhao Qingshun, Yan Biao, Zhao Chen

Abstract excerpt

PURPOSE: The aim of this study was to investigate the genetic basis and pathogenic mechanism of variable maculopathies, ranging from mild photoreceptor degeneration to central areolar choroidal dystrophy, in a five-generation family. METHODS: Clinical characterizations, whole-exome sequencing, and genome-wide linkage analysis were carried out on the family. Zebrafish models were used to investigate the...

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Identifiers

PMID: 28125083
DOI: 10.1038/gim.2016.217
PMCID: PMC5548935

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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