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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Библиографические подробности
Главные авторы: Panza, Emanuele, Marini, Monica, Pecci, Alessandro, Giacopelli, Francesca, Bozzi, Valeria, Seri, Marco, Balduini, Carlo, Ravazzolo, Roberto
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2008
Предметы:
Research
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2633265/
https://ncbi.nlm.nih.gov/pubmed/19046415
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8417-1-5
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