A de novo band 3 mutation in hereditary spherocytosis

[1] A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis [J]. HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2009, 94 (08): : 1049 - 1059

[2] 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 [J]. BLOOD, 1995, 85 (03) : 634 - 640

[3] Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (11) : 6337 - 6342

[4] 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]. EUROPEAN JOURNAL OF HAEMATOLOGY, 2005, 74 (05) : 396 - 401

[5] Lima PRM, 1999, EUR J HAEMATOL, V63, P360

[6] Molecular and haematological studies of four families with hereditary spherocytosis resulting from band 3 deficiency [J]. ACTA HAEMATOLOGICA, 2006, 116 (02) : 143 - 145

[7] Hereditary spherocytosis [J]. LANCET, 2008, 372 (9647) : 1411 - 1426

[8] A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis [J]. PEDIATRIC NEPHROLOGY, 2003, 18 (07) : 644 - 648

[9] Yawata Y, 2000, INT J HEMATOL, V71, P118

[1] A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis [J]. HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2009, 94 (08): : 1049 - 1059

[2] 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 [J]. BLOOD, 1995, 85 (03) : 634 - 640

[3] Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (11) : 6337 - 6342

[4] 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]. EUROPEAN JOURNAL OF HAEMATOLOGY, 2005, 74 (05) : 396 - 401

[5] Lima PRM, 1999, EUR J HAEMATOL, V63, P360

[6] Molecular and haematological studies of four families with hereditary spherocytosis resulting from band 3 deficiency [J]. ACTA HAEMATOLOGICA, 2006, 116 (02) : 143 - 145

[7] Hereditary spherocytosis [J]. LANCET, 2008, 372 (9647) : 1411 - 1426

[8] A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis [J]. PEDIATRIC NEPHROLOGY, 2003, 18 (07) : 644 - 648

[9] Yawata Y, 2000, INT J HEMATOL, V71, P118