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pro vyhledávání: '"Refik Ozcan"'
Publikováno v:
British Journal of Haematology. 122:669-677
Nonsense/stop mutations in the ankyrin-1 gene (ANK1) are a major cause of dominant HS (dHS) (frequency of 23% in German dHS patients). To date, no common mutation has been found and therefore a simple mutation screening is not feasible. The reduced e
Publikováno v:
British journal of haematology. 122(4)
Nonsense/stop mutations in the ankyrin-1 gene (ANK1) are a major cause of dominant HS (dHS) (frequency of 23% in German dHS patients). To date, no common mutation has been found and therefore a simple mutation screening is not feasible. The reduced e
Autor:
Arnulf Pekrun, Refik Ozcan, Bernard G. Forget, Marion Dornwell, Patrick G. Gallagher, Jennifer M. Gonzalez, Jutta Herbers, Samuel E. Lux, Marcia L. Lux, Alphonse L. Scarpa, Wilfried Kugler, William T. Tse, Werner Schroter, Stefan W. Eber
Publikováno v:
Nature genetics. 13(2)
Hereditary spherocytosis (HS) is the most common inherited haemolytic anaemia in Northern Europeans. The primary molecular defects reside in the red blood cell (RBC) membrane, particularly in proteins that link the membrane skeleton to the overlying