A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia

Inherited skeletal disorders affect both humans and animals. In the current study, we have performed series of clinical, pathological and genetic examinations to characterize a previously unreported skeletal disease in the Karelian Bear Dog (KBD) breed. The disease was recognized in seven KBD puppie...

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Detalles Bibliográficos
Autores principales: Kyöstilä, Kaisa, Syrjä, Pernilla, Lappalainen, Anu K., Arumilli, Meharji, Hundi, Sruthi, Karkamo, Veera, Viitmaa, Ranno, Hytönen, Marjo K., Lohi, Hannes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353930/
https://www.ncbi.nlm.nih.gov/pubmed/30700765
http://dx.doi.org/10.1038/s41598-018-37801-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353930/
https://www.ncbi.nlm.nih.gov/pubmed/30700765
http://dx.doi.org/10.1038/s41598-018-37801-2

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