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 |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
Public Library of Science (PLoS)
2012
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Materias: | |
Acceso en línea: | https://doaj.org/article/cf4bcbb6b4234e3b937da7e2068fe7d0 |
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