Evidence for the founder effect of a novel ACVRL1 splice-site mutation in Hungarian hereditary hemorrhagic telangiectasia families.
Department of Otorhinolaryngology, Markhot Ferenc Hospital, Eger, Hungary. majordoki2@gmail.com.
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Major
Division of Clinical Laboratory Science, Department of Laboratory Medicine, University of Debrecen, Debrecen, Hungary.
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Gindele
Division of Clinical Laboratory Science, Department of Laboratory Medicine, University of Debrecen, Debrecen, Hungary.
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Szabó
Medical Diagnostic Laboratory, Institute of Immunology and Genetics, Kaiserslautern, Germany.
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Alef
Medical Diagnostic Laboratory, Institute of Immunology and Genetics, Kaiserslautern, Germany.
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Thiele
Department of Radiology, Markhot Ferenc Hospital, Eger, Hungary.
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Bora
Department of Radiology, Markhot Ferenc Hospital, Eger, Hungary.
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Kis
Hungarian Heraldic and Genealogical Society, Budapest, Hungary.
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Bárdossy
Department of Otorhinolaryngology, Markhot Ferenc Hospital, Eger, Hungary.
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Rácz
Department of Otorhinolaryngology, Markhot Ferenc Hospital, Eger, Hungary.
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Havacs
Division of Clinical Laboratory Science, Department of Laboratory Medicine, University of Debrecen, Debrecen, Hungary.
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Bereczky
D030301:Activin Receptors, Type II / Q000235:genetics*; D000071063:Endoglin; D018703:Founder Effect; D006801:Humans; D006814:Hungary; D009154:Mutation; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics*
D000071063:Endoglin; C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II