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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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Hlavní autoři: Rosenberg, Philip S., Tamary, Hannah, Alter, Blanche P.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
Témata:
On-line přístup: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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