Compound heterozygosity for two novel mutations in the erythrocyte protein 4.2 gene causing spherocytosis in a Caucasian patient
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2141.2010.08516.x/fullpdf
Reference10 articles.
1. Investigating the key membrane protein changes during in vitro erythropoiesis of protein 4.2 (-) cells (mutations Chartres 1 and 2);van den Akker;Haematologica,2010
2. Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex;Bruce;Blood,2002
3. A band 3-based macrocomplex of integral and peripheral proteins in the RBC membrane;Bruce;Blood,2003
4. Hereditary spherocytosis - defects in proteins that connect the membrane skeleton to the lipid bilayer;Eber;Seminars in Hematology,2004
5. A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia;Hayette;British Journal of Haematology,1995
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