Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis

Blood

Volumn 126, Issue 11, 2015, Pages 1281-1284

  Glogowska, Edyta ^a   Lezon Geyda, Kimberly ^a   Maksimova, Yelena ^a   Schulz, Vincent P ^a   Gallagher, Patrick G ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM ACTIVATED POTASSIUM CHANNEL; INTERMEDIATE CONDUCTANCE CALCIUM ACTIVATED POTASSIUM CHANNEL; ION CHANNEL; KCNN4 PROTEIN, HUMAN; PIEZO1 PROTEIN, HUMAN;

ALGORITHM; ARTICLE; AUTOSOMAL DOMINANT DISORDER; DEHYDRATION; ERYTHROCYTE VOLUME; EXOME; GENE; GENE LOCUS; GENE SEGREGATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC VARIABILITY; HEMOLYTIC ANEMIA; HEREDITARY XEROCYTOSIS; HETEROZYGOSITY; HOMEOSTASIS; HUMAN; KCNN4 GENE; MISSENSE MUTATION; PHENOTYPE; PIEZO1 GENE; PRIORITY JOURNAL; SALT WASTING; SICKLE CELL; WATER LOSS; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; DOMINANT GENE; FEMALE; FETUS HYDROPS; GENETIC ASSOCIATION; GENETICS; HEREDITARY HEMOLYTIC ANEMIA; HETEROZYGOTE; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANEMIA, HEMOLYTIC, CONGENITAL; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; HETEROZYGOTE; HUMANS; HYDROPS FETALIS; INTERMEDIATE-CONDUCTANCE CALCIUM-ACTIVATED POTASSIUM CHANNELS; ION CHANNELS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84942414438     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2015-07-657957     Document Type: Article

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