Glogowska, Edyta

Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis. [electronic resource] - Blood Sep 2015 - 1281-4 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1528-0020

10.1182/blood-2015-07-657957 doi


Amino Acid Sequence
Amino Acid Substitution
Anemia, Hemolytic, Congenital--genetics
Base Sequence
DNA Mutational Analysis
Exome--genetics
Female
Genes, Dominant
Genetic Association Studies
Heterozygote
Humans
Hydrops Fetalis--genetics
Intermediate-Conductance Calcium-Activated Potassium Channels--genetics
Ion Channels--genetics
Male
Molecular Sequence Data
Mutation, Missense
Pedigree
Sequence Homology, Amino Acid