Cation-leak stomatocytosis in Standard Schnauzers does not cosegregate with coding mutations in the RhAG, SLC4A1, or GLUT1 genes associated with human disease

Blood Cells, Molecules, and Diseases

Volumn 48, Issue 4, 2012, Pages 219-225

  Shmukler, Boris E ^a,c   Rivera, Alicia ^b,c   Vandorpe, David H ^a,c   Alves, Jessica ^b   Bonfanti, Ugo ^d   Paltrinieri, Saverio ^e   Alper, Seth L ^a,c  

^a BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^b Childrens Hospital   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d Accelera Srl   (Italy)

^e UNIVERSITY OF MILAN   (Italy)

Author keywords

AE1; Erythrocytes; GLUT1; RhAG; Schnauzer; Stomatocytosis

Indexed keywords

ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); COMPLEMENTARY DNA; SODIUM CHLORIDE; SODIUM POTASSIUM CHLORIDE COTRANSPORTER;

ARTICLE; CATION LEAK STOMATOCYTOSIS; CATION TRANSPORT; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA POLYMORPHISM; DNA SEQUENCE; DOG; ERYTHROCYTE; GENE; GENE MUTATION; GENE SEGREGATION; GENETIC ASSOCIATION; GENETIC CODE; GLUT1 GENE; MEAN CORPUSCULAR VOLUME; NONHUMAN; NUCLEOTIDE SEQUENCE; PATCH CLAMP; PRIORITY JOURNAL; RETICULOCYTOSIS; RHAG GENE; SCHNAUZER; SLC4A1 GENE; SODIUM CELL LEVEL; STOMATOCYTOSIS;

ANEMIA, HEMOLYTIC, CONGENITAL; ANIMALS; ANION EXCHANGE PROTEIN 1, ERYTHROCYTE; BIOLOGICAL TRANSPORT; CATIONS; DOGS; ERYTHROCYTE INDICES; ERYTHROCYTES; FEMALE; GLUCOSE TRANSPORTER TYPE 1; HUMANS; IONS; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; OPEN READING FRAMES; PEDIGREE; POLYMORPHISM, GENETIC; SEQUENCE ANALYSIS, DNA;

CANIS FAMILIARIS;

EID: 84858794567     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2012.02.003     Document Type: Article

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