A mutation in the Gardos channel is associated with hereditary xerocytosis

Blood

Volumn 126, Issue 11, 2015, Pages 1273-1280

  Rapetti Mauss, Raphael ^a   Lacoste, Caroline ^b,c   Picard, Véronique ^d,e   Guitton, Corinne ^d   Lombard, Elise ^b,f   Loosveld, Marie ^c   Nivaggioni, Vanessa ^c   Dasilva, Nathalie ^b   Salgado, David ^b   Desvignes, Jean Pierre ^b   Béroud, Christophe ^b,c   Viout, Patrick ^b   Bernard, Monique ^b   Soriani, Olivier ^a   Vinti, Henri ^g   Lacroze, Valérie ^c   Feneant Thibault, Madeleine ^d   Thuret, Isabelle ^c   Guizouarn, Hélène ^a   Badens, Catherine ^b,c,f  

^a CENTRE DE BIOCHIMIE   (France)

^b AIX MARSEILLE UNIVERSITY   (France)

^c TIMONE HOSPITAL   (France)

^d BICÊTRE HOSPITAL   (France)

^e UNIVERSITÉ PARIS SACLAY   (France)

^f HÔPITAL DE LA CONCEPTION   (France)

^g CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GARDOS CHANNEL; POTASSIUM CHANNEL; UNCLASSIFIED DRUG; INTERMEDIATE CONDUCTANCE CALCIUM ACTIVATED POTASSIUM CHANNEL; KCNN4 PROTEIN, HUMAN; MUTANT PROTEIN; RECOMBINANT PROTEIN;

ANIMAL CELL; ARTICLE; CELL STRUCTURE; CONTROLLED STUDY; GENE MUTATION; HEMOLYSIS; HEREDITARY HEMOLYTIC ANEMIA; HEREDITARY XEROCYTOSIS; HUMAN; HUMAN CELL; MISSENSE MUTATION; NONHUMAN; PATCH CLAMP TECHNIQUE; POTASSIUM TRANSPORT; PRIORITY JOURNAL; XENOPUS; ADULT; AMINO ACID SEQUENCE; ANIMAL; BLOOD; CASE REPORT; CHEMICAL STRUCTURE; CHEMISTRY; DOMINANT GENE; ERYTHROCYTE DISORDER; FEMALE; FETUS HYDROPS; GENETICS; HEK293 CELL LINE; IN VITRO STUDY; INFANT; MALE; METABOLISM; MOLECULAR GENETICS; NEWBORN; OOCYTE; OSMOTIC FRAGILITY; PEDIGREE; PREGNANCY; PRESCHOOL CHILD; SEQUENCE HOMOLOGY; XENOPUS LAEVIS;

ADULT; AMINO ACID SEQUENCE; ANEMIA, HEMOLYTIC, CONGENITAL; ANIMALS; CHILD, PRESCHOOL; ERYTHROCYTES, ABNORMAL; FEMALE; GENES, DOMINANT; HEK293 CELLS; HUMANS; HYDROPS FETALIS; IN VITRO TECHNIQUES; INFANT; INFANT, NEWBORN; INTERMEDIATE-CONDUCTANCE CALCIUM-ACTIVATED POTASSIUM CHANNELS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION, MISSENSE; OOCYTES; OSMOTIC FRAGILITY; PATCH-CLAMP TECHNIQUES; PEDIGREE; PREGNANCY; RECOMBINANT PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; XENOPUS LAEVIS;

EID: 84942474124     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2015-04-642496     Document Type: Article

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