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Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders
Inherited platelet disorders (IPD) are a heterogeneous group of rare disorders that affect platelet number and function and often predispose to other significant medical complications. In spite of the identification of over 50 IPD disease-associated genes, a molecular diagnosis is only identified in...
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| Pubblicato in: | Am J Hematol |
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| Autori principali: | , , , , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6366456/ https://ncbi.nlm.nih.gov/pubmed/28960434 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajh.24917 |
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