Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Moudji Khanfar"'
Autor:
Ashley M. Toye, Jean Delaunay, Brigitte Bader-Meunier, Moudji Khanfar, Gil Tchernia, Madeleine Thibault, Thérèse Cynober, Lesley J. Bruce, Rosalind C. Williamson, Michèle Dechaux
Publikováno v:
Blood
We describe a mutation in human erythrocyte band 3 (anion exchanger 1; SLC4A1) causing both hereditary spherocytosis and distal renal tubular acidosis. The proband developed a transfusion-dependent, hemolytic anemia following birth. Immunoblotting sh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ba28f26630c15a8d7d5e13e63d892a8
https://doi.org/10.1182/blood-2007-07-099473
https://doi.org/10.1182/blood-2007-07-099473
Autor:
Moudji Khanfar, Brigitte Bader-Meunier, Ashley M. Toye, Madeleine Thibault, G. Tchernia, Lesley J. Bruce, Jean Delaunay, Michèle Dechaux, Thérèse Cynober, Rosalind C. Williamson
Publikováno v:
Blood. 108:1563-1563
We describe the second case of a homozygous mutation in band 3 (anion exchanger 1 (AE1), SLC4A1) causing both hereditary spherocytosis (HS) and distal renal tubular acidosis (dRTA). This new variant differed from the previous homozygous variant (Band
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e4880077d46da7bb71c443c955de206c
https://doi.org/10.1182/blood.v108.11.1563.1563
https://doi.org/10.1182/blood.v108.11.1563.1563