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Protein 4.1 Lille, a novel mutation in the downstream initiation codon of protein 4.1 gene associated with heterozygous 4,1(−) hereditary elliptocytosis

1995; Wiley; Volume: 5; Issue: 4 Linguagem: Inglês

10.1002/humu.1380050412

1098-1004

M Garbarz, Isabelle Devaux, Odile Bournier, Bernard Grandchamp, D Dhermy,

Caveolin-1 and cellular processes

Human MutationVolume 5, Issue 4 p. 339-340 Mutation in Brief Protein 4.1 Lille, a novel mutation in the downstream initiation codon of protein 4.1 gene associated with heterozygous 4,1(−) hereditary elliptocytosis M. Garbarz, Corresponding Author M. Garbarz Génétique et Pathologie Moléculaires de L'Hématopoïése, Inserum U. 409, Faculté de Médecine X. Bichat, B.P. 416, 75870 Paris Cedex 18, France; Fax: 33-1-42264 624Génétique et Pathologie Moléculaires de L'Hématopoïése, Inserum U. 409, Faculté de Médecine X. Bichat, B.P. 416, 75870 Paris Cedex 18, France; Fax: 33-1-42264 624Search for more papers by this authorI. Devaux, I. Devaux Génétique et Pathologie Moléculaires de L'Hématopoïése, Inserum U. 409, Faculté de Médecine X. Bichat, B.P. 416, 75870 Paris Cedex 18, France; Fax: 33-1-42264 624Search for more papers by this authorO. Bournier, O. Bournier Génétique et Pathologie Moléculaires de L'Hématopoïése, Inserum U. 409, Faculté de Médecine X. Bichat, B.P. 416, 75870 Paris Cedex 18, France; Fax: 33-1-42264 624Search for more papers by this authorB. Grandchamp, B. Grandchamp Génétique et Pathologie Moléculaires de L'Hématopoïése, Inserum U. 409, Faculté de Médecine X. Bichat, B.P. 416, 75870 Paris Cedex 18, France; Fax: 33-1-42264 624Search for more papers by this authorD. Dhermy, D. Dhermy Génétique et Pathologie Moléculaires de L'Hématopoïése, Inserum U. 409, Faculté de Médecine X. Bichat, B.P. 416, 75870 Paris Cedex 18, France; Fax: 33-1-42264 624Search for more papers by this author M. Garbarz, Corresponding Author M. Garbarz Génétique et Pathologie Moléculaires de L'Hématopoïése, Inserum U. 409, Faculté de Médecine X. Bichat, B.P. 416, 75870 Paris Cedex 18, France; Fax: 33-1-42264 624Génétique et Pathologie Moléculaires de L'Hématopoïése, Inserum U. 409, Faculté de Médecine X. Bichat, B.P. 416, 75870 Paris Cedex 18, France; Fax: 33-1-42264 624Search for more papers by this authorI. Devaux, I. Devaux Génétique et Pathologie Moléculaires de L'Hématopoïése, Inserum U. 409, Faculté de Médecine X. Bichat, B.P. 416, 75870 Paris Cedex 18, France; Fax: 33-1-42264 624Search for more papers by this authorO. Bournier, O. Bournier Génétique et Pathologie Moléculaires de L'Hématopoïése, Inserum U. 409, Faculté de Médecine X. Bichat, B.P. 416, 75870 Paris Cedex 18, France; Fax: 33-1-42264 624Search for more papers by this authorB. Grandchamp, B. Grandchamp Génétique et Pathologie Moléculaires de L'Hématopoïése, Inserum U. 409, Faculté de Médecine X. Bichat, B.P. 416, 75870 Paris Cedex 18, France; Fax: 33-1-42264 624Search for more papers by this authorD. Dhermy, D. Dhermy Génétique et Pathologie Moléculaires de L'Hématopoïése, Inserum U. 409, Faculté de Médecine X. Bichat, B.P. 416, 75870 Paris Cedex 18, France; Fax: 33-1-42264 624Search for more papers by this author First published: 1995 https://doi.org/10.1002/humu.1380050412Citations: 7AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. References Alloisio N, Morlé L, Dorléac E, Gentilhomme O, Bachir D, Guetarni D, Colonna P, Bost M, Zouaoui Z, Roda L, Roussel D, Delaunary J (1985) The heterozygous form of the 4.1(—) hereditary elliptocytosis [the 4.l(—)trait]. Blood 65: 46– 51. Conboy JG (1993) Structure, function, and molecular genetics of erythroid membrane skeletal protein 4.1 in normal and abnormal red blood cells. Semin Hematol 30: 58– 73. Dalla Venezia N, Gilsanz F, Alloisio N, Ducluzeau MT, Benz EJ, Jr, Delaunay J (1992) Homozygous 4.1(—) heterditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene. J Clin Invest 90: 1713– 1717. Feddal S, Brunet G, Roda L, Chabanis S, Alloisio N, Morlé L, Ducluzeau MT, Maréchal J, Robert JM, Benz EJ, Delaunary J, Baklouti F (1991) Molecular analysis of hereditary elliptocytosis with reduced protein 4.1 in the French northern Alps. Blood 78: 2113– 2119. Palek J, Jarolim P (1993) Clinical expression and laboratory detection of red blood cell membrane protein mutations. Semin Hematol 30: 249– 283. Parquet N, Devaux I, Boulanger L, Galand C, Boivin P, Lecomte MC, Dhermy D, Garbarz M (1994) Identification of three novel spectrin αI/74 mutations in hereditary elliptocytosis. Further support for a triple-stranded folding unit model of the spectrin heterodimer contact site. Blood 84: 303– 308. Saiki RK, Gelfand DH, Stoffel S, Sharf S, Higuchi R, Horn GT, Mullis KB, Erlich HA (1988) Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239: 487– 491. Citing Literature Volume5, Issue41995Pages 339-340 ReferencesRelatedInformation