Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal‐Dominant Hereditary Connective Tissue Disease

Heritable connective tissue diseases are a highly heterogeneous family of over 200 disorders that affect the extracellular matrix. While the genetic basis of several disorders is established, the etiology has not been discovered for a large portion of patients, likely due to rare yet undiscovered di...

Descripción completa

Detalles Bibliográficos
Autores principales: Capuano, Alessandra, Bucciotti, Francesco, Farwell, Kelly D., Tippin Davis, Brigette, Mroske, Cameron, Hulick, Peter J., Weissman, Scott M., Gao, Qingshen, Spessotto, Paola, Colombatti, Alfonso, Doliana, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4738430/
https://www.ncbi.nlm.nih.gov/pubmed/26462740
http://dx.doi.org/10.1002/humu.22920

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4738430/
https://www.ncbi.nlm.nih.gov/pubmed/26462740
http://dx.doi.org/10.1002/humu.22920

Ejemplares similares