MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease based on Genotype-Phenotype Correlations

MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in the gene for non-muscle myosin heavy chain IIA (NMMHC-IIA). MYH9-RD is characterized by a considerable variability in clinical evolution: patients present at birth with only thrombocytopenia, but some of them...

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Udgivet i:Hum Mutat
Main Authors: Pecci, Alessandro, Klersy, Catherine, Gresele, Paolo, Lee, Kieran J.D., De Rocco, Daniela, Bozzi, Valeria, Russo, Giovanna, Heller, Paula G., Loffredo, Giuseppe, Ballmaier, Matthias, Fabris, Fabrizio, Beggiato, Eloise, Kahr, Walter HA, Pujol-Moix, Nuria, Platokouki, Helen, Van Geet, Christel, Noris, Patrizia, Yerram, Preethi, Hermans, Cedric, Gerber, Bernhard, Economou, Marina, De Groot, Marco, Zieger, Barbara, De Candia, Erica, Fraticelli, Vincenzo, Kersseboom, Rogier, Piccoli, Giorgina B., Zimmermann, Stefanie, Fierro, Tiziana, Glembotsky, Ana C., Vianello, Fabrizio, Zaninetti, Carlo, Nicchia, Elena, Güthner, Christiane, Baronci, Carlo, Seri, Marco, Knight, Peter J., Balduini, Carlo L., Savoia, Anna
Format: Artigo
Sprog:Inglês
Udgivet: 2013
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6233870/
https://ncbi.nlm.nih.gov/pubmed/24186861
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22476
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