Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient

Genetic diagnosis of inherited metabolic disease is conventionally achieved through syndrome recognition and targeted gene sequencing, but many patients receive no specific diagnosis. Next-generation sequencing allied to capture of expressed sequences from genomic DNA now offers a powerful new diagn...

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Detalles Bibliográficos
Autores principales: Raffan, Eleanor, Hurst, Liam A., Turki, Saeed Al, Carpenter, Gillian, Scott, Carol, Daly, Allan, Coffey, Alison, Bhaskar, Sanjeev, Howard, Eleanor, Khan, Naz, Kingston, Helen, Palotie, Aarno, Savage, David B., O'Driscoll, Mark, Smith, Claire, O'Rahilly, Stephen, Barroso, Inês, Semple, Robert K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Research Foundation 2011
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3356119/
https://www.ncbi.nlm.nih.gov/pubmed/22654791
http://dx.doi.org/10.3389/fendo.2011.00008

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