First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking. [electronic resource]
Producer: 20161019Description: 51-6 p. digitalISSN:- 1364-6753
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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