Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE).
about
Genetic disorders of the red cell membranesMembrane dynamics of the water transport protein aquaporin-1 in intact human red cells.A nonsense mutation 1669Glu-->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis.Molecular basis of spectrin deficiency in beta spectrin Durham. A deletion within beta spectrin adjacent to the ankyrin-binding site precludes spectrin attachment to the membrane in hereditary spherocytosis.Electrogenic sulfate/chloride exchange in Xenopus oocytes mediated by murine AE1 E699Q.A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis.Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation.Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemiaNovel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.ABO blood group glycans modulate sialic acid recognition on erythrocytes.Enhanced suicidal death of erythrocytes from gene-targeted mice lacking the Cl-/HCO(3)(-) exchanger AE1.Advances in understanding the pathogenesis of the red cell volume disorders.Action at a distance: another lesson from the red cell.Loss of rotational mobility of band 3 proteins in human erythrocyte membranes induced by antibodies to glycophorin ATrafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger.Augmented erythrocyte band-3 phosphorylation in septic miceAnalysis of integral membrane protein contributions to the deformability and stability of the human erythrocyte membrane.Bicarbonate Transport During Enamel Maturation.Hereditary Red Cell Membrane Disorders in Japan: Their Genotypic and Phenotypic Features in 1014 Cases Studied.Effect of band 3 subunit equilibrium on the kinetics and affinity of ankyrin binding to erythrocyte membrane vesicles.Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger.
P2860
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P2860
Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE).
description
1994 nî lūn-bûn
@nan
1994 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Duplication of 10 nucleotides ...... ein deficiency (band 3PRAGUE).
@ast
Duplication of 10 nucleotides ...... ein deficiency (band 3PRAGUE).
@en
Duplication of 10 nucleotides in the erythroid band 3
@nl
type
label
Duplication of 10 nucleotides ...... ein deficiency (band 3PRAGUE).
@ast
Duplication of 10 nucleotides ...... ein deficiency (band 3PRAGUE).
@en
Duplication of 10 nucleotides in the erythroid band 3
@nl
prefLabel
Duplication of 10 nucleotides ...... ein deficiency (band 3PRAGUE).
@ast
Duplication of 10 nucleotides ...... ein deficiency (band 3PRAGUE).
@en
Duplication of 10 nucleotides in the erythroid band 3
@nl
P2093
P2860
P356
P1476
Duplication of 10 nucleotides ...... ein deficiency (band 3PRAGUE).
@en
P2093
C Brugnara
L H Derick
P2860
P304
P356
10.1172/JCI116935
P407
P577
1994-01-01T00:00:00Z