Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants

The heterogeneous manifestations of MYH9‐related disorder (MYH9‐RD), characterized by macrothrombocytopenia, Döhle‐like inclusion bodies in leukocytes, bleeding of variable severity with, in some cases, ear, eye, kidney, and liver involvement, make the diagnosis for these patients still challenging...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Bury, Loredana, Megy, Karyn, Stephens, Jonathan C., Grassi, Luigi, Greene, Daniel, Gleadall, Nick, Althaus, Karina, Allsup, David, Bariana, Tadbir K., Bonduel, Mariana, Butta, Nora V., Collins, Peter, Curry, Nicola, Deevi, Sri V. V., Downes, Kate, Duarte, Daniel, Elliott, Kim, Falcinelli, Emanuela, Furie, Bruce, Keeling, David, Lambert, Michele P., Linger, Rachel, Mangles, Sarah, Mapeta, Rutendo, Millar, Carolyn M., Penkett, Christopher, Perry, David J., Stirrups, Kathleen E., Turro, Ernest, Westbury, Sarah K., Wu, John, BioResource, NIHR, Gomez, Keith, Freson, Kathleen, Ouwehand, Willem H., Gresele, Paolo, Simeoni, Ilenia
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6972977/
https://ncbi.nlm.nih.gov/pubmed/31562665
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23927
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados