Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders

MYH9-Related Disorders are a group of rare autosomal dominant platelet disorders presenting as nonsyndromic forms characterized by macrothrombocytopenia with giant platelets and leukocyte inclusion bodies or as syndromic forms combining these hematological features with deafness and/or nephropathy a...

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Hlavní autoři: Saposnik, Béatrice, Binard, Sylvie, Fenneteau, Odile, Nurden, Alan, Nurden, Paquita, Hurtaud-Roux, Marie-Françoise, Schlegel, Nicole
Médium: Artigo
Jazyk:Inglês
Vydáno: BlackWell Publishing Ltd 2014
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4113270/
https://ncbi.nlm.nih.gov/pubmed/25077172
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.68
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