First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.

Rodríguez-García, María Elena

First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking. [electronic resource] - Neurogenetics Jan 2016 - 51-6 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1364-6753

10.1007/s10048-015-0463-z doi


Biological Transport--genetics
Brain Diseases, Metabolic, Inborn--genetics
Carboxylic Ester Hydrolases--chemistry
Catalytic Domain--genetics
Child
Cholesterol--metabolism
Consanguinity
Humans
Intracellular Space--metabolism
Lipase--chemistry
Lipid Metabolism, Inborn Errors--genetics
Male
Mutation, Missense
Neurodegenerative Diseases--genetics
Protein Structure, Tertiary--genetics