Challenges of diagnostic exome sequencing in an inbred founder population

Exome sequencing was used as a diagnostic tool in a Roma/Gypsy family with three subjects (one deceased) affected by lissencephaly with cerebellar hypoplasia (LCH), a clinically and genetically heterogeneous diagnostic category. Data analysis identified high levels of unreported inbreeding, with mul...

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Detalles Bibliográficos
Autores principales: Azmanov, Dimitar N, Chamova, Teodora, Tankard, Rick, Gelev, Vladimir, Bynevelt, Michael, Florez, Laura, Tzoneva, Dochka, Zlatareva, Dora, Guergueltcheva, Velina, Bahlo, Melanie, Tournev, Ivailo, Kalaydjieva, Luba
Formato: Artigo
Lenguaje:Inglês
Publicado: Blackwell Publishing Ltd 2013
Materias:
Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3865571/
https://ncbi.nlm.nih.gov/pubmed/24498604
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.7
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