Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Raquel Montero-Sánchez"'
Autor:
L. Rodriguez-Revenga, María-Socorro Pérez-Poyato, M. Mar García González, Mercé Pineda Marfa, Montserrat Milá Recansens, Ramón Velázquez Fragua, Antonio Martínez-Bermejo, Rafael Camino León, Rosario Domingo Jiménez, Victoria Cusí Sánchez, Raquel Montero Sánchez, Isidre Ferrer Abizanda
Publikováno v:
Journal of Inherited Metabolic Disease. 34:1083-1093
Juvenile neuronal ceroid lipofuscinosis (JNCL, NCL3, Batten disease) is usually caused by a 1.02-kb deletion in the CLN3 gene. Mutations in the CLN1 gene may be associated with a variant form of JNCL (vJNCL). We report the clinical course and molecul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6ac52028d4580dc24da4c3126680207
https://doi.org/10.1007/s10545-011-9323-7
https://doi.org/10.1007/s10545-011-9323-7
Publikováno v:
Enfermedades Infecciosas y Microbiología Clínica. 23:455
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0cb1954eb87745e75f34d9931c8cf330
https://doi.org/10.1157/13078807
https://doi.org/10.1157/13078807