A Novel GUSB Mutation in Brazilian Terriers with Severe Skeletal Abnormalities Defines the Disease as Mucopolysaccharidosis VII

Hundreds of different human skeletal disorders have been characterized at molecular level and a growing number of resembling dysplasias with orthologous genetic defects are being reported in dogs. This study describes a novel genetic defect in the Brazilian Terrier breed causing a congenital skeleta...

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Detalles Bibliográficos
Autores principales: Hytönen, Marjo K., Arumilli, Meharji, Lappalainen, Anu K., Kallio, Heli, Snellman, Marjatta, Sainio, Kirsi, Lohi, Hannes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3395332/
https://www.ncbi.nlm.nih.gov/pubmed/22815736
http://dx.doi.org/10.1371/journal.pone.0040281

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3395332/
https://www.ncbi.nlm.nih.gov/pubmed/22815736
http://dx.doi.org/10.1371/journal.pone.0040281

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