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spherocytosis
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EPB42
The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene
ANK1
cDNA sequence for human erythrocyte ankyrin
SPTB
Molecular cloning of the cDNA for human erythrocyte beta-spectrin
Isolation and characterization of cDNA clones for human erythrocyte beta-spectrin
SPTA1
Hereditary spherocytosis: from clinical to molecular defects.
Spectrin tethers and mesh in the biosynthetic pathway.
Molecular basis of red cell membrane disorders.
SLC4A1
A transport metabolon. Functional interaction of carbonic anhydrase II and chloride/bicarbonate exchangers
Carbonic anhydrase II binds to the carboxyl terminus of human band 3, the erythrocyte C1-/HCO3- exchanger
Cancer Gene Census
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ANK1
Somatic tumors
CCRCC
Tumor types germline
Cancer Syndrom
Translocation partner
Name
ankyrin 1
Chromosome banding
8p11.21
Cancer molecular gen.
Mutation type
Mis
Other syndrome disease
Definition
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Pathways
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L1CAM interactions
species not specified
3 genes
Clinical Trials
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