A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families

Fanconi anemia (FA) is a rare recessive DNA repair deficiency resulting from mutations in one of at least 22 genes. Two-thirds of FA families harbor mutations in FANCA. To genotype patients in the International Fanconi Anemia Registry (IFAR) we employed multiple methodologies, screening 216 families...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Kimble, Danielle C., Lach, Francis P., Gregg, Siobhan Q., Donovan, Frank X., Flynn, Elizabeth K., Kamat, Aparna, Young, Alice, Vemulapalli, Meghana, Thomas, James W., Mullikin, James C., Auerbach, Arleen D., Smogorzewska, Agata, Chandrasekharappa, Settara C.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5762269/
https://ncbi.nlm.nih.gov/pubmed/29098742
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23366
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