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Somatic Mosaicism of an Intragenic FANCB Duplication in Both Fibroblast and Peripheral Blood Cells Observed in a Fanconi Anemia Patient Leads to Milder Phenotype.

Rajalakshmi S. Asur,Danielle C. Kimble,Francis P. Lach,Moonjung Jung,Frank X. Donovan,Aparna Kamat,Raymond J. Noonan,James W. Thomas,Morgan Park,Peter Chines,Adrianna Vlachos,Arleen D. Auerbach,Agata Smogorzewska,Settara C. Chandrasekharappa

Molecular Genetics & Genomic Medicine（2017）

引用 31|浏览64
关键词
droplet digital PCR,FANCB,intragenic duplication,milder phenotype,revertant mosaicism
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