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Clinical and Haplotypic Variability of Slovenian USH2A Patients Homozygous for the c. 11864G>A Nonsense Mutation

Purpose: to determine a detailed clinical and haplotypic variability of the Slovenian USH2A patients with homozygous c.11864G>A (p.Trp3955Ter) nonsense mutation and to develop sensitive, accurate and rapid screening test. Methods: Ten unrelated homozygous patients with detailed ophthalmological e...

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Detalles Bibliográficos
Autores principales:	Zupan, Andrej, Fakin, Ana, Battelino, Saba, Jarc-Vidmar, Martina, Hawlina, Marko, Bonnet, Crystel, Petit, Christine, Glavač, Damjan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947556/ https://www.ncbi.nlm.nih.gov/pubmed/31817543 http://dx.doi.org/10.3390/genes10121015

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