Comprehensive Analysis of Pathogenic Deletion Variants in Fanconi Anemia Genes

Fanconi anemia (FA) is a rare recessive disease resulting from mutations in one of at least 16 different genes. Mutation types and phenotypic manifestations of FA are highly heterogeneous and influence the clinical management of the disease. We analyzed 202 FA families for large deletions, using hig...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Flynn, Elizabeth K., Kamat, Aparna, Lach, Francis P., Donovan, Frank X., Kimble, Danielle C., Narisu, Narisu, Sanborn, Erica, Boulad, Farid, Davies, Stella M., Gillio, Alfred P., Harris, Richard E., MacMillan, Margaret L., Wagner, John E., Smogorzewska, Agata, Auerbach, Arleen D., Ostrander, Elaine A., Chandrasekharappa, Settara C.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4407816/
https://ncbi.nlm.nih.gov/pubmed/25168418
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22680
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