Caricamento...

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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Am J Hematol
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2017
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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !