Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Andrea Diez-Lloret"'
Autor:
Lourdes Valdés-Sánchez, Sofia M. Calado, Berta de la Cerda, Ana Aramburu, Ana Belén García-Delgado, Simone Massalini, Adoración Montero-Sánchez, Vaibhav Bhatia, Eduardo Rodríguez-Bocanegra, Andrea Diez-Lloret, Daniel Rodríguez-Martínez, Christina Chakarova, Shom S. Bhattacharya, Francisco J. Díaz-Corrales
Publikováno v:
Molecular Medicine, Vol 26, Iss 1, Pp 1-22 (2019)
Abstract Background Mutations in pre-mRNA splicing factor PRPF31 can lead to retinitis pigmentosa (RP). Although the exact disease mechanism remains unknown, it has been hypothesized that haploinsufficiency might be involved in the pathophysiology of
Externí odkaz:
https://doaj.org/article/4203642594924275af0ef4649cdbe192
Autor:
Berta de la Cerda, Andrea Díez-Lloret, Beatriz Ponte, Laura Vallés-Saiz, Sofia M. Calado, Eduardo Rodríguez-Bocanegra, Ana B. Garcia-Delgado, Marina Moya-Molina, Shom S. Bhattacharya, Francisco J. Díaz-Corrales
Publikováno v:
Stem Cell Research, Vol 36, Iss , Pp - (2019)
PRPF31 gene codes for a ubiquitously expressed splicing factor but mutations affect exclusively the retina, producing the progressive death of photoreceptor cells. We have identified a novel PRPF31 mutation in a patient with autosomal dominant retini
Externí odkaz:
https://doaj.org/article/bbbee2807e8843b19c94bf566e287f42