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Mutation survey in Taiwanese patients with Stickler syndrome

PURPOSE: The purpose of this study was to identify gene mutation and phenotype correlations in a cohort of Taiwanese patients with Stickler syndrome. MATERIALS AND METHODS: Patients clinically diagnosed with Stickler syndrome or suspected Stickler syndrome were enrolled. DNA was extracted from venou...

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Detalles Bibliográficos
Autores principales:	Huang, Faye, Wang, Tzu-Jou, Cho, Wan-Hua, Chen, Yi-Hao, Wu, Pei-Chang, Kuo, Hsi-Kung
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2022
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9843582/ https://www.ncbi.nlm.nih.gov/pubmed/36660125 http://dx.doi.org/10.4103/tjo.tjo_3_22

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