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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Mutat
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2014
Pynciau:
Article
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg