Literature DB >> 6426236

Hereditary elliptocytosis with a spectrin molecular defect in a white patient.

M C Lecomte, D Dhermy, M Garbarz, H Gautero, O Bournier, C Galand, P Boivin.   

Abstract

According to recent works, hereditary elliptocytosis (HE) appears to be related in some instances, to a defective self-association of spectrin (type I HE). We report a new case of type I HE observed in a white patient. Study of limited tryptic digestion of a spectrin dimer showed modification of a peptide involved in the dimer self-association process.

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Year:  1984        PMID： 6426236     DOI： 10.1159/000206593

Source DB:  PubMed          Journal:  Acta Haematol        ISSN： 0001-5792            Impact factor:   2.195


  4 in total

1.  Abnormal electrophoretic mobility of spectrin tetramers in hereditary elliptocytosis.

Authors:  D Dhermy; M Garbarz; M C Lecomte; I Chaveroche; O Bournier; H Gautero; I Blot; P Boivin
Journal:  Hum Genet       Date:  1986-12       Impact factor: 4.132

2.  Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association.

Authors:  W T Tse; M C Lecomte; F F Costa; M Garbarz; C Feo; P Boivin; D Dhermy; B G Forget
Journal:  J Clin Invest       Date:  1990-09       Impact factor: 14.808

3.  Hereditary pyropoikilocytosis and elliptocytosis in a Caucasian family. Transmission of the same molecular defect in spectrin through three generations with different clinical expression.

Authors:  M C Lecomte; D Dhermy; M Garbarz; C Feo; H Gautero; O Bournier; C Picat; I Chaveroche; C Galand; P Boivin
Journal:  Hum Genet       Date:  1987-12       Impact factor: 4.132

4.  Pathologic and nonpathologic variants of the spectrin molecule in two black families with hereditary elliptocytosis.

Authors:  M C Lecomte; D Dhermy; M Garbarz; C Feo; H Gautero; O Bournier; C Picat; I Chaveroche; A Ester; C Galand
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132
  4 in total

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