A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias

Accurate diagnosis of rare inherited anaemias is challenging, requiring a series of complex and expensive laboratory tests. Targeted next‐generation‐sequencing (NGS) has been used to investigate these disorders, but the selection of genes on individual panels has been narrow and the validation strat...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Br J Haematol
Principais autores: Roy, Noémi B. A., Wilson, Edward A., Henderson, Shirley, Wray, Katherine, Babbs, Christian, Okoli, Steven, Atoyebi, Wale, Mixon, Avery, Cahill, Mary R., Carey, Peter, Cullis, Jonathan, Curtin, Julie, Dreau, Helene, Ferguson, David J. P., Gibson, Brenda, Hall, Georgina, Mason, Joanne, Morgan, Mary, Proven, Melanie, Qureshi, Amrana, Sanchez Garcia, Joaquin, Sirachainan, Nongnuch, Teo, Juliana, Tedgård, Ulf, Higgs, Doug, Roberts, David, Roberts, Irene, Schuh, Anna
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
Assuntos:
Red Cells and Iron
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5132128/
https://ncbi.nlm.nih.gov/pubmed/27432187
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/bjh.14221
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registros relacionados