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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Détails bibliographiques
Publié dans:Hum Mutat
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: 2015
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Article
Accès en ligne: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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