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

Internet

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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