Arginine 490 is a hot spot for mutation in the band 3 gene in hereditary spherocytosis
Author:
Publisher
Wiley
Subject
Hematology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0609.1999.tb01141.x/fullpdf
Reference17 articles.
1. Band 3 Tuscaloosa: Pro327→ Arg327 substitution in cytoplasmic domain of erythrocyte band 3 protein associated with spherocytic haemolytic anaemia and partial deficiency of protein 4.2;Jarolim;Blood,1992
2. Human erythrocyte protein 4.2 deficiency associated with haemolytic anaemia and a homozygous 40 glu → lys substitution in the cytoplasmic domain of band 3 (Band 3 Montefiore);Rybicki;Blood,1993
3. Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3Prague);Jarolim;J Clin Invest,1994
4. Band 3 Milano: A large (69 Bp) duplication of the erythrocyte band 3 gene associated with dominant hereditary spherocytosis;Bianchi;Blood,1995
5. Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis;Jarolim;Blood,1995
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