TY  - GEN
AU  - Rodríguez-García,María Elena
AU  - Martín-Hernández,Elena
AU  - de Aragón,Ana Martínez
AU  - García-Silva,María Teresa
AU  - Quijada-Fraile,Pilar
AU  - Arenas,Joaquín
AU  - Martín,Miguel A
AU  - Martínez-Azorín,Francisco
TI  - First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking
SN  - 1364-6753
PY  - 2016///1019
KW  - Biological Transport
KW  - genetics
KW  - Brain Diseases, Metabolic, Inborn
KW  - Carboxylic Ester Hydrolases
KW  - chemistry
KW  - Catalytic Domain
KW  - Child
KW  - Cholesterol
KW  - metabolism
KW  - Consanguinity
KW  - Humans
KW  - Intracellular Space
KW  - Lipase
KW  - Lipid Metabolism, Inborn Errors
KW  - Male
KW  - Mutation, Missense
KW  - Neurodegenerative Diseases
KW  - Protein Structure, Tertiary
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s10048-015-0463-z
ER  -