Hereditary spherocytosis due to band 3 deficiency: 15 novel mutations in SLC4A1.

Autor: Van Zwieten R, François JJ, Van Leeuwen K, Van Wesel AC, Van Bruggen R, Van Solinge WW, Roos D, Verhoeven AJ, Van Wijk R

Publikováno v: American journal of hematology [Am J Hematol] 2013 Feb; Vol. 88 (2), pp. 159-60. Date of Electronic Publication: 2012 Dec 17.

Erythrocytosis associated with a novel missense mutation in the HIF2A gene.

Autor: van Wijk R; Laboratory for Red Blood Cell Research, Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht, the Netherlands., Sutherland S, Van Wesel AC, Huizinga EG, Percy MJ, Bierings M, Lee FS

Publikováno v: Haematologica [Haematologica] 2010 May; Vol. 95 (5), pp. 829-32. Date of Electronic Publication: 2009 Dec 08.

Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.

Autor: van Wijk R; Laboratory for Red Blood Cell Research, Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht, The Netherlands. R.vanWijk@umcutrecht.nl, Huizinga EG, van Wesel AC, van Oirschot BA, Hadders MA, van Solinge WW

Publikováno v: Human mutation [Hum Mutat] 2009 Mar; Vol. 30 (3), pp. 446-53.

Ex vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiency.

Autor: Wijk R; Department of Clinical Chemistry, University Medical Centre Utrecht, 3508 GA Utrecht, The Netherlands., van Wesel AC, Thomas AA, Rijksen G, van Solinge WW

Publikováno v: British journal of haematology [Br J Haematol] 2004 Apr; Vol. 125 (2), pp. 253-63.