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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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Auteurs principaux: | , , , , , , |
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Format: | Artigo |
Langue: | Inglês |
Publié: |
BlackWell Publishing Ltd
2014
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Sujets: | |
Accès en ligne: | 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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