TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations

Precise genetic and phenotypic characterization of congenital stationary night blindness (CSNB) patients is needed for future therapeutic interventions. The aim of this study was to estimate the prevalence of CSNB in our populations and to study clinical and genetic aspects of the autosomal recessiv...

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Detalles Bibliográficos
Autores principales: AlTalbishi, Alaa, Zelinger, Lina, Zeitz, Christina, Hendler, Karen, Namburi, Prasanthi, Audo, Isabelle, Sheffer, Ruth, Yahalom, Claudia, Khateb, Samer, Banin, Eyal, Sharon, Dror
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6700182/
https://www.ncbi.nlm.nih.gov/pubmed/31427709
http://dx.doi.org/10.1038/s41598-019-46811-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6700182/
https://www.ncbi.nlm.nih.gov/pubmed/31427709
http://dx.doi.org/10.1038/s41598-019-46811-7

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