Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders

Genetic disorders of the skeleton comprise a large group of more than 450 clinically distinct and genetically heterogeneous diseases associated with mutations in more than 300 genes. Achieving a definitive diagnosis is complicated due to the genetic heterogeneity of these disorders, their individual...

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Detalles Bibliográficos
Autores principales: Polla, Daniel L., Cardoso, Maria T. O., Silva, Mayara C. B., Cardoso, Isabela C. C., Medina, Cristina T. N., Araujo, Rosenelle, Fernandes, Camila C., Reis, Alessandra M. M., de Andrade, Rosangela V., Pereira, Rinaldo W., Pogue, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4575211/
https://www.ncbi.nlm.nih.gov/pubmed/26380986
http://dx.doi.org/10.1371/journal.pone.0138314

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