Clinical utility gene card for: Sitosterolaemia.

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Clinical utility gene card for: Sitosterolaemia.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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2016年學術文章

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2016年學術文章

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Clinical utility gene card for: Sitosterolaemia.

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Clinical utility gene card for: Sitosterolaemia.

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Clinical utility gene card for: Sitosterolaemia.

@en

Clinical utility gene card for: Sitosterolaemia.

@nl

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Clinical utility gene card for: Sitosterolaemia.

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Clinical utility gene card for: Sitosterolaemia.

@nl

P1476

Clinical utility gene card for: Sitosterolaemia

@en

P2093

Amanda J Hooper

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Damon A Bell

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P2860

Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters

Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively

Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.

Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management

Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.

Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.

Sitosterolemia: diagnosis, investigation, and management.

Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters

P2888

ejhg.2016.187

P31

scholarly article

P356

10.1038/EJHG.2016.187

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P433

http://www.w3.org/2001/XMLSchema#string

P478

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P50

Robert A. Hegele

John R Burnett

P577

2016-12-28T00:00:00Z

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P698

28029149

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P932

5386411

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