3GALLAGHER P G,FORGET B G.Hematologically important mutations:band 3 and protein 4.2 variants in hereditary spherocytosis[J].Blood Cell Mol Dis,1997,23(3):417-421.
4INOUE T,KANZAKI A,KAKU M,et al.Homozygous missense mutation (band 3 Fukuoka:G130R):a mild form of hereditary spherocytosis with near-normal band 3 content and minimal changes of membrane ultrastructure despite moderate protein 4.2 deficiency[J].Br J Haematol,1998,102(4):932-939.
5LIMA P R,BARATTI M O,CHIATTONE M L,et al.Band 3Tambau′:a de novo mutation in the AE1 gene associated with hereditary spherocytosis.Implications for anion exchange and insertion into the red blood cell membrane[J].Eur J Haematol,2005,74(5):396-401.
6CHEIDDE L,VIEIRA T C,LIMA P R,et al.A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis.Pediatrics[J].2003,112(6 Pt 1):1361-1367.
7GALLAGHER P G,FORGET B G.Hematologically important mutations:spectrin and ankyrin variants in hereditary spherocytosis[J].Blood,1998,24(4):539-543.
8BASSèRES D S,DUARTE A S,HASSOUN H,et al.Beta-Spectrin S(ta) Bárbara:a novel frameshift mutation in here-ditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism[J].Br J Haematol,2001,115(2):347-353.
10DELAUNAY J,NOUYRIGAT V,PROUST A,et al.Different impacts of alleles αLEPRA and αLELY as assessed versus a novel,virtually null allele of the SPTA1 gene in trans[J].Br J Haematol,2004,127(1):118-122.
4Iolascon A, Avvisati RA. Genotype/phenotype correlation in hereditary spherocytosis[J].Haematologica,2008,93:1283-1288.
5Mariani M, Barcellii W, Vercellati C, et al. Clinical and hematologyic features of 300 patients affected by hereditary spherocytosis groupeda-ccording to the type of the membrane protein defect[J]. Haematologica, 2008,93 .. 1310-1317.
10Rybicki AC, Heath R,Wolf JL,et al. Deficiency of protein4. 2 in erythrocytes from a patient with a Coombs negative he-molytic anemia. Evidence for a role of protein 4. 2 in stabilizingankyrin on the membrane[J]. J Clin Invest, 1988,81(3): 893.