POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

Segmental progeroid syndromes are rare, heterogeneous disorders characterized by signs of premature aging affecting more than one tissue or organ. A prototypic example is the Werner syndrome (WS), caused by biallelic germline mutations in the Werner helicase gene (WRN). While heterozygous lamin A/C...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Lessel, Davor, Hisama, Fuki M., Szakszon, Katalin, Saha, Bidisha, Sanjuanelo, Alexander Barrios, Salbert, Bonnie A., Steele, Pamela D., Baldwin, Jennifer, Brown, W. Ted, Piussan, Charles, Plauchu, Henri, Szilvássy, Judit, Horkay, Edit, Hoögel, Josef, Martin, George M., Herr, Alan J., Oshima, Junko, Kubisch, Christian
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4684254/
https://ncbi.nlm.nih.gov/pubmed/26172944
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22833
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