caa a22 4500 397574851 CHVBK 20180308164852.0 cr unu---uuuuu 161202e199612 xx s 000 0 eng 10.1093/hmg/5.12.1909 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.12.1909 Homozygous and Compound Heterozygous Mutations at the Werner Syndrome Locus [Elektronische Daten] [Junko Oshima, Chang-En Yu, Charles Piussan, Georg Klein, Jörg Jabkowski, Sevim Balci, Tetsuro Miki, Jun Nakura, Toshio Ogihara, James Ells, Marilia de A. C. Smith, Maria I. Melaragno, Marco Fraccaro, Susi Scappaticci, John Matthews, Samir Ouais, Amy Jarzebowicz, Gerard D. Schellenberg, George M. Martin] The Werner syndrome (WS) is a rare autosomal recessive progeroid disorder. The Werner syndrome gene (WRN) has recently been identified as a member of the helicase family. Four distinct mutations were previously reported in three Japanese and one Syrian WS pedigrees. The latter mutation was originally described as a 4 bp deletion spanning a spliced junction. It is now shown that this mutation results in a 4 bp deletion at the beginning of an exon. Nine new WRN mutations in 10 additional WS patients, both Japanese and Caucasian, are described. These include three compound heterozygotes (one Japanese and two Caucasian). The new mutations are located all across the coding region. © 1993 Oxford University Press Oshima Junko Box 357470, Department of Pathology, University of Washington, Seattle, WA 98195, USA aut Yu Chang-En Geriatrics Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle Division, Seattle, WA, USA aut Piussan Charles Pediatric Genetics, University of Amiens, Amiens, 80054, France aut Klein Georg Dermatologische Abteilung, Allgem. offentliche Krankenhaus der Elisabethinen, Linz, 239 Austria aut Jabkowski Jörg Dermatologische Abteilung, Allgem. offentliche Krankenhaus der Elisabethinen, Linz, 239 Austria aut Balci Sevim Department of Clinical Genetics, Hacettepe University Children's Hispital, Ankara, Turkey aut Miki Tetsuro Department of Geriatric Medicine, Osaka University, Osaka, 565, Japan aut Nakura Jun Department of Geriatric Medicine, Osaka University, Osaka, 565, Japan aut Ogihara Toshio Department of Geriatric Medicine, Osaka University, Osaka, 565, Japan aut Ells James Internal Medicine Clinic, Nellis Air Force Base Hospital, Las Vegas, NV 89101, USA aut Smith Marilia de A. C. Division of Genetics, Escola Paulista de Medicina, São Paulo, 04023, Brazil aut Melaragno Maria I. Division of Genetics, Escola Paulista de Medicina, São Paulo, 04023, Brazil aut Fraccaro Marco Medical Genetics, University of Pavia, Pavia, Italy aut Scappaticci Susi Medical Genetics, University of Pavia, Pavia, Italy aut Matthews John Group Health, Fairfax, VA 22039, USA aut Ouais Samir Section of Endocrinology, Damascus City Hospital, Damascus, Syria aut Jarzebowicz Amy Box 357470, Department of Pathology, University of Washington, Seattle, WA 98195, USA aut Schellenberg Gerard D. Geriatrics Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle Division, Seattle, WA, USA aut Martin George M. Box 357470, Department of Pathology, University of Washington, Seattle, WA 98195, USA aut Human Molecular Genetics Oxford University Press 5/12(1996-12), 1909-1913 0964-6906 5:12<1909 1996 5 hmg https://doi.org/10.1093/hmg/5.12.1909 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.12.1909 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Oshima Junko Box 357470, Department of Pathology, University of Washington, Seattle, WA 98195, USA aut NATIONALLICENCE 700 1- Yu Chang-En Geriatrics Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle Division, Seattle, WA, USA aut NATIONALLICENCE 700 1- Piussan Charles Pediatric Genetics, University of Amiens, Amiens, 80054, France aut NATIONALLICENCE 700 1- Klein Georg Dermatologische Abteilung, Allgem. offentliche Krankenhaus der Elisabethinen, Linz, 239 Austria aut NATIONALLICENCE 700 1- Jabkowski Jörg Dermatologische Abteilung, Allgem. offentliche Krankenhaus der Elisabethinen, Linz, 239 Austria aut NATIONALLICENCE 700 1- Balci Sevim Department of Clinical Genetics, Hacettepe University Children's Hispital, Ankara, Turkey aut NATIONALLICENCE 700 1- Miki Tetsuro Department of Geriatric Medicine, Osaka University, Osaka, 565, Japan aut NATIONALLICENCE 700 1- Nakura Jun Department of Geriatric Medicine, Osaka University, Osaka, 565, Japan aut NATIONALLICENCE 700 1- Ogihara Toshio Department of Geriatric Medicine, Osaka University, Osaka, 565, Japan aut NATIONALLICENCE 700 1- Ells James Internal Medicine Clinic, Nellis Air Force Base Hospital, Las Vegas, NV 89101, USA aut NATIONALLICENCE 700 1- Smith Marilia de A. C. Division of Genetics, Escola Paulista de Medicina, São Paulo, 04023, Brazil aut NATIONALLICENCE 700 1- Melaragno Maria I. Division of Genetics, Escola Paulista de Medicina, São Paulo, 04023, Brazil aut NATIONALLICENCE 700 1- Fraccaro Marco Medical Genetics, University of Pavia, Pavia, Italy aut NATIONALLICENCE 700 1- Scappaticci Susi Medical Genetics, University of Pavia, Pavia, Italy aut NATIONALLICENCE 700 1- Matthews John Group Health, Fairfax, VA 22039, USA aut NATIONALLICENCE 700 1- Ouais Samir Section of Endocrinology, Damascus City Hospital, Damascus, Syria aut NATIONALLICENCE 700 1- Jarzebowicz Amy Box 357470, Department of Pathology, University of Washington, Seattle, WA 98195, USA aut NATIONALLICENCE 700 1- Schellenberg Gerard D. Geriatrics Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle Division, Seattle, WA, USA aut NATIONALLICENCE 700 1- Martin George M. Box 357470, Department of Pathology, University of Washington, Seattle, WA 98195, USA aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/12(1996-12), 1909-1913 0964-6906 5:12<1909 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford