caa a22 4500 467986290 CHVBK 20180323112533.0 cr unu---uuuuu 170328e19901101xx s 000 0 eng 10.1007/BF00205182 doi (NATIONALLICENCE)springer-10.1007/BF00205182 Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy [Elektronische Daten] [James Skare, Hasan Yazici, Eren Erken, Hulya Dede, Alan Cohen, Aubrey Milunsky, Martha Skinner] Summary: A Turkish family is described with two members suffering from familial amyloidotic polyneuropathy. Their transthyretin genes were examined using the polymerase chain reaction, and both patients possessed the met30 mutation in both of their transthyretin genes. In this family, only individuals who are homozygous for the met30 mutation have developed symptoms. Springer-Verlag, 1990 Skare James Center for Human Genetics and Departments of Pediatrics and Microbiology, Boston University School of Medicine, 02118, Boston, MA, USA aut Yazici Hasan Division of Rheumatology, Cerrahpasa Medical Faculty, Istanbul, Turkey aut Erken Eren Department of Medicine, Cukurova University, Adana, Turkey aut Dede Hulya Division of Rheumatology, Cerrahpasa Medical Faculty, Istanbul, Turkey aut Cohen Alan Arthritis Center and Department of Medicine, Boston University School of Medicine, 02118, Boston, MA, USA aut Milunsky Aubrey Center for Human Genetics and Departments of Pediatrics and Microbiology, Boston University School of Medicine, 02118, Boston, MA, USA aut Skinner Martha Arthritis Center and Department of Medicine, Boston University School of Medicine, 02118, Boston, MA, USA aut Human Genetics Springer-Verlag 86/1(1990-11-01), 89-90 0340-6717 86:1<89 1990 86 439 https://doi.org/10.1007/BF00205182 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00205182 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Skare James Center for Human Genetics and Departments of Pediatrics and Microbiology, Boston University School of Medicine, 02118, Boston, MA, USA aut NATIONALLICENCE 700 1- Yazici Hasan Division of Rheumatology, Cerrahpasa Medical Faculty, Istanbul, Turkey aut NATIONALLICENCE 700 1- Erken Eren Department of Medicine, Cukurova University, Adana, Turkey aut NATIONALLICENCE 700 1- Dede Hulya Division of Rheumatology, Cerrahpasa Medical Faculty, Istanbul, Turkey aut NATIONALLICENCE 700 1- Cohen Alan Arthritis Center and Department of Medicine, Boston University School of Medicine, 02118, Boston, MA, USA aut NATIONALLICENCE 700 1- Milunsky Aubrey Center for Human Genetics and Departments of Pediatrics and Microbiology, Boston University School of Medicine, 02118, Boston, MA, USA aut NATIONALLICENCE 700 1- Skinner Martha Arthritis Center and Department of Medicine, Boston University School of Medicine, 02118, Boston, MA, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 86/1(1990-11-01), 89-90 0340-6717 86:1<89 1990 86 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer