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Recent Origin and Spread of a Common Lithuanian Mutation, G197del LDLR, Causing Familial Hypercholesterolemia: Positive Selection Is Not Always Necessary to Account for Disease Incidence among Ashkenazi Jews

G197del is the most prevalent LDL receptor (LDLR) mutation causing familial hypercholesterolemia (FH) in Ashkenazi Jew (AJ) individuals. The purpose of this study was to determine the origin, age, and population distribution of G197del, as well as to explore environmental and genetic effects on dise...

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Bibliographic Details
Main Authors: Durst, Ronen, Colombo, Roberto, Shpitzen, Shoshi, Avi, Liat Ben, Friedlander, Yechiel, Wexler, Roni, Raal, Frederick J., Marais, David A., Defesche, Joep C., Mandelshtam, Michail Y., Kotze, Maritha J., Leitersdorf, Eran, Meiner, Vardiella
Format: Artigo
Language:Inglês
Published: The American Society of Human Genetics 2001
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226098/
https://ncbi.nlm.nih.gov/pubmed/11309683
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