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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Détails bibliographiques
Publié dans:Hum Mutat
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: 2017
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Article
Accès en ligne: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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