Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Froylán García-Martínez"'
Autor:
Leire Irusteta, Arturo Ramírez-Miranda, Alejandro Navas-Pérez, Luis Montes-Almanza, José Arteaga, Froylán García-Martínez, Enrique Graue-Hernández, Juan C. Zenteno
Publikováno v:
Ophthalmic genetics. 43(5)
The purpose of this study is to describe the corneal clinical spectrum and the intrafamilial phenotypic differences in an extended pedigree suffering from stromal corneal dystrophy due to the rare p.Ala546Asp mutation in TGFBI.A total of 15 members f
Publikováno v:
Revista de Investigación Clínica, Vol 74, Iss 4 (2022)
Background: Genetic eye disorders, affecting around one in 1000 people, encompass a diverse group of diseases causing severe visual deficiency. The recent adoption of next-generation sequencing techniques, including whole-exome sequencing (WES), in m
Externí odkaz:
https://doaj.org/article/db420bae54974f49b9ba259ac3eaf6f1