A mutation in the Gardos channel is associated with hereditary xerocytosis. [electronic resource]
Producer: 20151204Description: 1273-80 p. digitalISSN:- 1528-0020
- Adult
- Amino Acid Sequence
- Anemia, Hemolytic, Congenital -- blood
- Animals
- Child, Preschool
- Erythrocytes, Abnormal -- metabolism
- Female
- Genes, Dominant
- HEK293 Cells
- Humans
- Hydrops Fetalis -- blood
- In Vitro Techniques
- Infant
- Infant, Newborn
- Intermediate-Conductance Calcium-Activated Potassium Channels -- blood
- Male
- Models, Molecular
- Molecular Sequence Data
- Mutant Proteins -- blood
- Mutation, Missense
- Oocytes -- metabolism
- Osmotic Fragility
- Patch-Clamp Techniques
- Pedigree
- Pregnancy
- Recombinant Proteins -- genetics
- Sequence Homology, Amino Acid
- Xenopus laevis
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Publication Type: Case Reports; Journal Article
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