Mutation spectrum and genotype‐phenotype correlations in a large French cohort of MYH9‐Related Disor...
Mutation spectrum and genotype‐phenotype correlations in a large French cohort of MYH9‐Related Disorders
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United States: John Wiley & Sons, Inc
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Language
English
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United States: John Wiley & Sons, Inc
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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 and/or cataracts. They are caused by mutations in t...
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Mutation spectrum and genotype‐phenotype correlations in a large French cohort of MYH9‐Related Disorders
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TN_cdi_doaj_primary_oai_doaj_org_article_f8b0267af6f94c31abf41c0135089159
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_f8b0267af6f94c31abf41c0135089159
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ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.68
