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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Autores principales: Marjo K Hytönen, Meharji Arumilli, Anu K Lappalainen, Heli Kallio, Marjatta Snellman, Kirsi Sainio, Hannes Lohi
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2012
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Acceso en línea:https://doaj.org/article/cf4bcbb6b4234e3b937da7e2068fe7d0
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