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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Veröffentlicht in:Am J Hematol
Hauptverfasser: Romasko, Edward J., Devkota, Batsal, Biswas, Sawona, Jayaraman, Vijayakumar, Rajagopalan, Ramakrishnan, Dulik, Matthew C., Thom, Christopher S., Choi, Jiwon, Jairam, Sowmya, Scarano, Maria I., Krantz, Ian D., Spinner, Nancy B., Conlin, Laura K., Lambert, Michele P.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2017
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Article
Online Zugang: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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