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How High are Carrier Frequencies of Rare Recessive Syndromes? Contemporary Estimates for Fanconi Anemia in the United States and Israel

For many recessive genetic syndromes, carrier frequencies have been assessed through screening studies in founder populations but remain unclear in heterogeneous populations. One such syndrome is Fanconi Anemia (FA). FA is a model disease in cancer research, yet there are no contemporary data on car...

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Bibliographic Details
Main Authors: Rosenberg, Philip S., Tamary, Hannah, Alter, Blanche P.
Format: Artigo
Language:Inglês
Published: 2011
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3140593/
https://ncbi.nlm.nih.gov/pubmed/21739583
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34087
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