Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines

BACKGROUND: Heterozygous mutations of MYH9, encoding the Non-Muscular Myosin Heavy Chain-IIA (NMMHC-IIA), cause a complex disorder named MYH9-related disease, characterized by a combination of different phenotypic features. At birth, patients present platelet macrocytosis, thrombocytopenia and leuko...

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Detalles Bibliográficos
Autores principales: Panza, Emanuele, Marini, Monica, Pecci, Alessandro, Giacopelli, Francesca, Bozzi, Valeria, Seri, Marco, Balduini, Carlo, Ravazzolo, Roberto
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2633265/
https://www.ncbi.nlm.nih.gov/pubmed/19046415
http://dx.doi.org/10.1186/1755-8417-1-5

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