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The Journal of Biological Chemistry|August 15, 1991
A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chainP G Gallagher, W T Tse, F Costa, et al.
British Journal of Haematology|October 1, 1994
A deletional frameshift mutation in spectrin beta-gene associated with hereditary elliptocytosis in spectrin NapoliR Wilmotte, E Miraglia del Giudice, J Marechal, et al.
Human Genetics|November 1, 1989
Two distinct variants of erythrocyte spectrin beta IV domainB Pothier, N Alloisio, L Morlé, et al.
British Journal of Haematology|August 1, 1995
Hereditary xerocytosis: a report of six unrelated Spanish families with leaky red cell syndrome and increased heat stability of the erythrocyte membraneJ L Vives Corrons, I Besson, M Aymerich, et al.
The Journal of Clinical Investigation|May 1, 1993
Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46R Wilmotte, J Maréchal, L Morlé, et al.
Blood|July 15, 1991
An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216)W T Tse, P G Gallagher, B Pothier, et al.
FEBS Letters|October 19, 1987
Hemoglobin Grange-Blanche [beta 27(B9) Ala----Val], a new variant with normal expression and increased affinity for oxygenF Baklouti, Y Giraud, A Francina, et al.
American Journal of Human Genetics|November 5, 1997
Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide searchP Gasparini, E Miraglia del Giudice, J Delaunay, et al.
British Journal of Haematology|November 1, 1994
A variant of spectrin low-expression allele alpha LELY carrying a hereditary elliptocytosis mutation in codon 28J Randon, L Boulanger, J Marechal, et al.
Blood|June 1, 1989
Molecular basis of Sp alpha I/65 hereditary elliptocytosis in North Africa: insertion of a TTG triplet between codons 147 and 149 in the alpha-spectrin gene from five unrelated familiesA F Roux, F Morlé, D Guetarni, et al.
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