A de novo ANK1 mutation associated to hereditary spherocytosis: a case report

[1] He Y(2017)Novel mutations in patients with hereditary red blood cell membrane disorders using next-generation sequencing Gene 627 556-562

[2] Jia S(2008)Hereditary spherocytosis Lancet 372 1411-1426

[3] Dewan RK(2015)A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates Pediatrics 135 1107-1114

[4] Liao N(2000)Natural history of hereditary spherocytosis during the first year of life Blood. 95 393-397

[5] Perrotta S(2018)Molecular genetic mechanisms of hereditary spherocytosis: current perspectives Acta Haematol 139 60-66

[6] Gallagher PG(2017)Hereditary spherocytosis - diagnosis, surgical treatment and outcomes. A literature review Chirurgia (Bucur) 112 110-116

[7] Mohandas N(2005)Hematologically important mutations: ankyrin variants in hereditary spherocytosis Blood Cells Mol Dis 35 345-347

[8] Christensen RD(2012)Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics Haematologica 97 516-523

[9] Yaish HM(2010)Hereditary spherocytosis in neonates with hyperbilirubinemia Pediatrics 125 120-125

[10] Gallagher PG(2007)The molecular basis of hereditary red cell membrane disorders Blood Rev 21 1-20

[1] He Y(2017)Novel mutations in patients with hereditary red blood cell membrane disorders using next-generation sequencing Gene 627 556-562

[2] Jia S(2008)Hereditary spherocytosis Lancet 372 1411-1426

[3] Dewan RK(2015)A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates Pediatrics 135 1107-1114

[4] Liao N(2000)Natural history of hereditary spherocytosis during the first year of life Blood. 95 393-397

[5] Perrotta S(2018)Molecular genetic mechanisms of hereditary spherocytosis: current perspectives Acta Haematol 139 60-66

[6] Gallagher PG(2017)Hereditary spherocytosis - diagnosis, surgical treatment and outcomes. A literature review Chirurgia (Bucur) 112 110-116

[7] Mohandas N(2005)Hematologically important mutations: ankyrin variants in hereditary spherocytosis Blood Cells Mol Dis 35 345-347

[8] Christensen RD(2012)Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics Haematologica 97 516-523

[9] Yaish HM(2010)Hereditary spherocytosis in neonates with hyperbilirubinemia Pediatrics 125 120-125

[10] Gallagher PG(2007)The molecular basis of hereditary red cell membrane disorders Blood Rev 21 1-20