Literature DB >> 8266114

Clinical expression and laboratory detection of red blood cell membrane protein mutations.

J Palek1, P Jarolim.   

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Year:  1993        PMID: 8266114

Source DB:  PubMed          Journal:  Semin Hematol        ISSN: 0037-1963            Impact factor:   3.851


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  14 in total

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2.  An elastic network model based on the structure of the red blood cell membrane skeleton.

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3.  Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis.

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4.  Influence of network topology on the elasticity of the red blood cell membrane skeleton.

Authors:  J C Hansen; R Skalak; S Chien; A Hoger
Journal:  Biophys J       Date:  1997-05       Impact factor: 4.033

5.  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.

Authors:  M Inaba; A Yawata; I Koshino; K Sato; M Takeuchi; Y Takakuwa; S Manno; Y Yawata; A Kanzaki; J Sakai; A Ban; K Ono; Y Maede
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6.  A surface replica method: a useful tool for studies of the cytoskeletal network in red cell membranes of normal subjects and patients with a beta-spectrin mutant (spectrin Le Puy: beta 220/214).

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7.  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.

Authors:  P Jarolim; H L Rubin; V Brabec; J Palek
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9.  Changes in erythrocyte morphology induced by imipramine and chlorpromazine.

Authors:  H Ahyayaucha; M Gallego; O Casis; M Bennouna
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10.  Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE).

Authors:  P Jarolim; H L Rubin; S C Liu; M R Cho; V Brabec; L H Derick; S J Yi; S T Saad; S Alper; C Brugnara
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