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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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Bibliografiset tiedot
Päätekijät: Rosenberg, Philip S., Tamary, Hannah, Alter, Blanche P.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2011
Aiheet:
Linkit: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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