Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Melissa Crocker"'
Autor:
Angels García-Cazorla, Melissa Crocker, Miguel Garrido-Pumar, Antonio Rodríguez-Núñez, Rosario Domingo-Jiménez, Julián Álvarez-Escudero, Ana I. Castro, Pablo Aguiar, Álvaro Ruibal, Antía Fernández-Pombo, Rebecca J. Brown, David Araújo-Vilar, Sofía Sánchez-Iglesias, Mar O'Callaghan, Alejandra Darling
Publikováno v:
Neurogenetics
Celia’s encephalopathy (Progressive Encephalopathy with/without Lipodystrophy, PELD) is a childhood neurodegenerative disorder with a fatal prognosis before the age of 10, due to the variant c.985C>T in the BSCL2 gene that causes a cryptic splicing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c78324c059181ab3aedec5b42e06f6ff
https://europepmc.org/articles/PMC7288395/
https://europepmc.org/articles/PMC7288395/
