Genetic Conditions > paroxysmal nocturnal hemoglobinuria >

References

These sources were used to develop the Genetics Home Reference condition summary on paroxysmal nocturnal hemoglobinuria.

Brodsky RA, Hu R. PIG-A mutations in paroxysmal nocturnal hemoglobinuria and in normal hematopoiesis. Leuk Lymphoma. 2006 Jul;47(7):1215-21. Review. PubMed citation
Grünewald M, Grünewald A, Schmid A, Schöpflin C, Schauer S, Griesshammer M, Koksch M. The platelet function defect of paroxysmal nocturnal haemoglobinuria. Platelets. 2004 May;15(3):145-54. PubMed citation
Inoue N, Izui-Sarumaru T, Murakami Y, Endo Y, Nishimura J, Kurokawa K, Kuwayama M, Shime H, Machii T, Kanakura Y, Meyers G, Wittwer C, Chen Z, Babcock W, Frei-Lahr D, Parker CJ, Kinoshita T. Molecular basis of clonal expansion of hematopoiesis in 2 patients with paroxysmal nocturnal hemoglobinuria (PNH). Blood. 2006 Dec 15;108(13):4232-6. Epub 2006 Aug 29. PubMed citation
Luzzatto L, Gianfaldoni G. Recent advances in biological and clinical aspects of paroxysmal nocturnal hemoglobinuria. Int J Hematol. 2006 Aug;84(2):104-12. Review. PubMed citation
Luzzatto L. Paroxysmal nocturnal hemoglobinuria: an acquired X-linked genetic disease with somatic-cell mosaicism. Curr Opin Genet Dev. 2006 Jun;16(3):317-22. Epub 2006 May 2. Review. PubMed citation
Mortazavi Y, Merk B, McIntosh J, Marsh JC, Schrezenmeier H, Rutherford TR; BIOMED II Pathophysiology and Treatment of Aplastic Anaemia Study Group. The spectrum of PIG-A gene mutations in aplastic anemia/paroxysmal nocturnal hemoglobinuria (AA/PNH): a high incidence of multiple mutations and evidence of a mutational hot spot. Blood. 2003 Apr 1;101(7):2833-41. Epub 2002 Nov 7. PubMed citation
OMIM: PHOSPHATIDYLINOSITOL GLYCAN, CLASS A
Rosti V. The molecular basis of paroxysmal nocturnal hemoglobinuria. Haematologica. 2000 Jan;85(1):82-7. Review. PubMed citation
Shichishima T, Noji H. Heterogeneity in the molecular pathogenesis of paroxysmal nocturnal hemoglobinuria (PNH) syndromes and expansion mechanism of a PNH clone. Int J Hematol. 2006 Aug;84(2):97-103. Review. PubMed citation
Tiu R, Maciejewski J. Immune pathogenesis of paroxysmal nocturnal hemoglobinuria. Int J Hematol. 2006 Aug;84(2):113-7. Review. PubMed citation


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