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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:Hum Mutat
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2013
Onderwerpen:
Article
Online toegang: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
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items