Caricamento...

Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

Fanconi anemia (FA) is a rare genomic instability syndrome. Disease-causing are biallelic mutations in any one of at least 15 genes encoding members of the FA/BRCA pathway of DNA-interstrand crosslink repair. Patients are diagnosed based upon phenotypical manifestationsand the diagnosis of FA is con...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Knies, Kerstin, Schuster, Beatrice, Ameziane, Najim, Rooimans, Martin, Bettecken, Thomas, de Winter, Johan, Schindler, Detlev
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2012
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3527584/
https://ncbi.nlm.nih.gov/pubmed/23285130
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0052648
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !