Rapetti-Mauss, Raphael

A mutation in the Gardos channel is associated with hereditary xerocytosis. [electronic resource] - Blood Sep 2015 - 1273-80 p. digital

Publication Type: Case Reports; Journal Article

1528-0020

10.1182/blood-2015-04-642496 doi


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