Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. [electronic resource]
Producer: 20140604Description: 320-4 p. digitalISSN:- 1096-8652
- ATP Binding Cassette Transporter, Subfamily G, Member 5
- ATP Binding Cassette Transporter, Subfamily G, Member 8
- ATP-Binding Cassette Transporters -- genetics
- Adult
- Anemia, Hemolytic, Congenital -- genetics
- Blood Platelets -- ultrastructure
- Cell Shape
- Cholesterol -- blood
- DNA Mutational Analysis
- Delayed Diagnosis
- Diagnostic Errors
- Erythrocytes, Abnormal -- ultrastructure
- Exons -- genetics
- Female
- Humans
- Hypercholesterolemia -- blood
- Intestinal Diseases -- blood
- Lipid Metabolism, Inborn Errors -- blood
- Lipoproteins -- genetics
- Male
- Middle Aged
- Osmotic Fragility
- Pedigree
- Phenotype
- Phytosterols -- adverse effects
- Prevalence
- Purpura, Thrombocytopenic, Idiopathic -- diagnosis
- Splenectomy
- Splenomegaly -- etiology
- Thrombocytopenia -- genetics
- Vacuoles -- ultrastructure
- Xanthomatosis -- etiology
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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