TY  - JOUR 
AU  - Sánchez-Iglesias, S.
AU  - Crocker, M.
AU  - O'Callaghan, M.
AU  - Darling, A.
AU  - García-Cazorla, A.
AU  - Domingo-Jiménez, R.
AU  - Castro Cives, Ana
AU  - Fernández Pombo, Antía
AU  - Ruibal Morell, Alvaro
AU  - Aguiar Fernández, Pablo
AU  - Garrido Pumar, Miguel
AU  - Rodríguez Núñez, Antonio
AU  - Álvarez Escudero, Julián
AU  - Brown, R. J.
AU  - ARAUJO VILAR, DAVID
PY  - 2019
SN  - 1364-6745
UR  - http://hdl.handle.net/20.500.11940/15545
AB  - 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...
TI  - Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant
DO  - 10.1007/s10048-019-00574-5
T2  - NEUROGENETICS
M2  - 73
KW  - CHUS
KW  - IDIS
VL  - 20
ER  -