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Article

New splice site mutations in MYO7A causing Usher syndrome type 1: a study on a Chinese consanguineous family.

International ophthalmology - 1 Jun 2023

Lin Qinghong, Yang Dong, Shen Zhengwei, Zhou Xingtao

Abstract excerpt

PURPOSE: This study investigated the new splice site mutations of Myosin VIIA (MYO7A) in patients with Usher syndrome type 1 (USH1) from a three-generation Chinese consanguineous family. METHODS: All subjects underwent comprehensive ophthalmic examinations and an audiometric test. Demographic data, family history, and peripheral blood leukocytes were collected. We performed whole exome sequencing (WES) to analyze...

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Identifiers

PMID: 36484953
DOI: 10.1007/s10792-022-02611-z

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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.

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