Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes

被引:0
作者
K. Sigvard Olsson
Olof Wålinder
Ulf Jansson
Maria Wilbe
Marie-Louise Bondeson
Eva-Lena Stattin
Ruma Raha-Chowdhury
Roger Williams
机构
[1] Section of Hematology and Coagulation,
[2] Department of Medicine,undefined
[3] Sahlgrenska Academy,undefined
[4] University of Göteborg,undefined
[5] Department of Medicine,undefined
[6] Östersund Hospital,undefined
[7] Department of Clinical Chemistry,undefined
[8] Sundsvall Hospital,undefined
[9] Department of Immunology,undefined
[10] Genetics and Pathology,undefined
[11] Science for Life Laboratory,undefined
[12] Uppsala University,undefined
[13] Department of Immunology,undefined
[14] Genetics and Pathology,undefined
[15] Uppsala University,undefined
[16] John van Geest Centre for Brain Repair,undefined
[17] Department of Clinical Neurosciences,undefined
[18] University of Cambridge,undefined
[19] Institute of Hepatology London,undefined
[20] Foundation for Liver Research,undefined
[21] London,undefined
[22] SE5 9NT and Faculty of Life Sciences & Medicine,undefined
[23] King´s College London,undefined
来源
Hereditas | / 154卷
关键词
Hereditary hemochromatosis; Wilson´s disease; Long QT syndrome; Jervell and Lange- Nielsen´s syndrome; Non syndromic hearing loss;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 228 条
[1]  
Einarsdottir E(2007)The genetic population structure of northern Sweden and its implications for mapping genetic diseases Hereditas 144 171-180
[2]  
Egerbladh I(2008)HLA haplotype map of river valley populations with hemochromatosis traced through five centuries in Central Sweden Eur J Haematol. 81 36-46
[3]  
Beckman L(2010)HLA-A3-B14 and the origin of the haemochromatosis C282Y mutation: founder effects and recombination events during 12 generations in a Scandinavian family with major iron overload Eur J Haematol 84 145-53.3
[4]  
Holmberg D(2015)Genetics, Genetic Testing, and Management of Hemochromatosis: 15 Years Since Hepcidin Gastroenterology. 149 1240-1251
[5]  
Escher SA(1955)Idiopathic hemochromatosis, an iron storage disease. A. Iron metabolism in hemochromatosis Medicine (Baltimore) 34 381-430
[6]  
Olsson KS(2004)The origin and spread of the HFE-C282Y haemochromatosis mutation Hum Genet 115 269-279
[7]  
Ritter B(2011)Was the C282Y mutation an Irish Gaelic mutation that the Vikings helped disseminate? HLA haplotype observations of hemochromatosis from the west coast of Sweden Eur J Haematol. 86 75-82
[8]  
Hansson N(2012)Letter to the Editor Eur J Haematol 88 179-180
[9]  
Chowdhury RR(2012)Common local founder effects for Wilson's disease and hereditary hemochromatosis; mutation studies of a large family Scand J Gastroenterol. 47 1014-1020
[10]  
Olsson KS(1957)Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval, and sudden death Am Heart J 54 59-68