Identification of point mutations and large intragenic deletions in Fanconi anemia using next‐generation sequencing technology

Fanconi anemia (FA) is a rare bone marrow failure disorder characterized by clinical and genetic heterogeneity with at least 17 genes involved, which make molecular diagnosis complex and time‐consuming. Since next‐generation sequencing technologies could greatly improve the genetic testing in FA, we...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Nicchia, Elena, Greco, Chiara, De Rocco, Daniela, Pecile, Vanna, D'Eustacchio, Angela, Cappelli, Enrico, Corti, Paola, Marra, Nicoletta, Ramenghi, Ugo, Pillon, Marta, Farruggia, Piero, Dufour, Carlo, Pallavicini, Alberto, Torelli, Lucio, Savoia, Anna
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2015
Assuntos:
Method
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4694132/
https://ncbi.nlm.nih.gov/pubmed/26740942
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.160
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados