Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene.
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A. Savoia | C. Balduini | A. Pecci | V. Bozzi | F. Faletra | D. De Rocco | N. Pujol-Moix
[1] H. Saito,et al. Identification and characterization of the first large deletion of the MYH9 gene associated with MYH9 disorders , 2008, European journal of haematology.
[2] P. Noris,et al. Position of nonmuscle myosin heavy chain IIA (NMMHC‐IIA) mutations predicts the natural history of MYH9‐related disease , 2008, Human mutation.
[3] A. Balduini,et al. Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations. , 2005, Human molecular genetics.
[4] E. Muñiz‐Díaz,et al. Sebastian platelet syndrome , 1991, Annals of Hematology.
[5] A. Greinacher,et al. Hereditary types of thrombocytopenia with giant platelets and inclusion bodies in the leukocytes , 1990, Blut: Zeitschrift für die Gesamte Blutforschung.
[6] M. Kelley,et al. Ultrastructural analysis of granulocyte inclusions in genetically confirmed MYH9-related disorders. , 2004, Haematologica.
[7] R. Ravazzolo,et al. MYH9-Related Disease: May-Hegglin Anomaly, Sebastian Syndrome, Fechtner Syndrome, and Epstein Syndrome Are not Distinct Entities but Represent a Variable Expression of a Single Illness , 2003, Medicine.
[8] H. Saito,et al. Immunofluorescence Analysis of Neutrophil Nonmuscle Myosin Heavy Chain-A in MYH9 Disorders: Association of Subcellular Localization with MYH9 Mutations , 2003, Laboratory Investigation.
[9] H. Watkins,et al. Mutations of the Light Meromyosin Domain of the &bgr;-Myosin Heavy Chain Rod in Hypertrophic Cardiomyopathy , 2002, Circulation research.
[10] U Magrini,et al. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. , 2000, Nature genetics.
[11] T. Ortel,et al. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly , 2000, Nature Genetics.
[12] G. Escolar,et al. Platelet ultrastructural morphometry for diagnosis of partial delta-storage pool disease in patients with mild platelet dysfunction and/or thrombocytopenia of unknown origin. A study of 24 cases. , 2000, Haematologica.