Homozygous and compound heterozygous mutations at the Werner syndrome locus

Homozygous and compound heterozygous mutations at the Werner syndrome locus

Autor Oshima, J. Google Scholar
Yu, C. E. Google Scholar
Piussan, C. Google Scholar
Klein, G. Google Scholar
Jabkowski, J. Google Scholar
Balci, S. Google Scholar
Miki, T. Google Scholar
Nakura, J. Google Scholar
Ogihara, T. Google Scholar
Ells, J. Google Scholar
Smith, Marilia de Arruda Cardoso Autor UNIFESP Google Scholar
Melaragno, Maria Isabel Autor UNIFESP Google Scholar
|Fraccaro, M. Google Scholar
Scappaticci, S. Google Scholar
Matthews, J. Google Scholar
Ouais, S. Google Scholar
Jarzebowicz, A. Google Scholar
Schellenberg, G. D. Google Scholar
Martin, G. M. Google Scholar
Instituição VET AFFAIRS PUGET SOUND HLTH CARE SYST
UNIV AMIENS
KRANKENHAUS ELISABETHINEN
HACETTEPE UNIV
OSAKA UNIV
NELLIS AIR FORCE BASE HOSP
Universidade Federal de São Paulo (UNIFESP)
UNIV PAVIA
GRP HLTH
DAMASCUS CITY HOSP
Resumo 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.
Idioma Inglês
Data de publicação 1996-12-01
Publicado em Human Molecular Genetics. Oxford: Oxford Univ Press United Kingdom, v. 5, n. 12, p. 1909-1913, 1996.
ISSN 0964-6906 (Sherpa/Romeo, fator de impacto)
Publicador Oxford Univ Press United Kingdom
Extensão 1909-1913
Fonte http://dx.doi.org/10.1093/hmg/5.12.1909
Direito de acesso Acesso aberto Open Access
Tipo Artigo
Web of Science WOS:A1996VX74700008
Endereço permanente http://repositorio.unifesp.br/handle/11600/25641

Exibir registro completo




Arquivo

Arquivo Tamanho Formato Visualização

Não existem arquivos associados a este item.

Este item está nas seguintes coleções

Buscar


Navegar

Minha conta