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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書誌詳細
出版年:Hum Mutat
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: 2017
主題:
Article
オンライン･アクセス: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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