Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Geneviève Carré"'
Autor:
J.-L. Stéphan, S. Hayette, O. Pascal, M. Bozon, Nicole Alloisio, J. Reynaud, J. Delaunay, Oumedaly Reman, R. Wilmotte, P. Maillet, L Morle, Geneviève Carré
Publikováno v:
American Journal of Hematology. 58:36-41
We present two distinct truncated variants of ankyrin associated with mild to moderate hereditary spherocytosis. Ankyrin Saint-Etienne 1 was manifested by an additional band located between bands 2.1 and 2.2. It was associated with a nonsense mutatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f6bcc55832264e610abfe0f4b614b13d
https://doi.org/10.1002/(sici)1096-8652(199805)58:1<36::aid-ajh7>3.0.co
https://doi.org/10.1002/(sici)1096-8652(199805)58:1<36::aid-ajh7>3.0.co
Publikováno v:
Archives de Pédiatrie. 2:S120
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::23960fd336a42419f8a135656b9c93bf
https://doi.org/10.1016/0929-693x(95)90026-8
https://doi.org/10.1016/0929-693x(95)90026-8
Autor:
J. Delaunay, A. Vallier, F Baklouti, Nicole Alloisio, P. Maillet, N Philippe, P Texier, Geneviève Carré
Publikováno v:
ResearcherID
We describe an 18-year-old with moderate hereditary spherocytosis. The condition was associated with a 35% decrease in band 3. The underlying mutation was Arg to stop at codon 150 (CGA-->TGA) and was designated R150X, which defined allele Lyon of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8956b471064706ec9ba357423c0b47c4
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:A1996VB32300038&KeyUID=WOS:A1996VB32300038
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:A1996VB32300038&KeyUID=WOS:A1996VB32300038
