Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: A case report

Blood Cells, Molecules, and Diseases

Volumn 52, Issue 1, 2014, Pages 53-54

  Shmukler, Boris E ^a,b   Vandorpe, David H ^a   Rivera, Alicia ^c   Auerbach, Michael ^d   Brugnara, Carlo ^b,c   Alper, Seth L ^a  

^a BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CATION CHANNEL; CATION CHANNEL PIEZO1; COMPLEMENTARY DNA; FOLIC ACID; GENOMIC DNA; PENTOXIFYLLINE; POTASSIUM; SODIUM; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; APLASTIC CRISIS; CASE REPORT; CATION TRANSPORT; CELL MEMBRANE CONDUCTANCE; CHOLECYSTECTOMY; CHOLELITHIASIS; CONTROLLED STUDY; DEHYDRATED STOMATOCYTIC ANEMIA; ERYTHROCYTE; FEMALE; GENE; GENE MUTATION; GENETIC CODE; HEMOGLOBIN BLOOD LEVEL; HETEROZYGOSITY; HETEROZYGOUS MUTATION; HUMAN; HUMAN CELL; JAUNDICE; LETTER; MEAN CORPUSCULAR HEMOGLOBIN; MEAN CORPUSCULAR VOLUME; MEGALOCYTOSIS; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; OSMOTIC FRAGILITY; PIEZO1 GENE; POTASSIUM CELL LEVEL; PRIORITY JOURNAL; RETICULOCYTE; SODIUM CELL LEVEL; STOMATOCYTOSIS;

ADULT; ANEMIA, HEMOLYTIC, CONGENITAL; CATIONS, MONOVALENT; ERYTHROCYTES; FEMALE; HETEROZYGOTE; HUMANS; HYDROPS FETALIS; ION CHANNELS; MEMBRANE POTENTIALS; MUTATION; OSMOTIC FRAGILITY; PATCH-CLAMP TECHNIQUES; POTASSIUM; SODIUM;

EID: 84888337916     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2013.07.015     Document Type: Letter

References (7)

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