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Mouse Samd9l is not a functional paralogue of the human SAMD9, the gene mutated in normophosphatemic familial tumoral calcinosis

Normophosphatemic familial tumoral calcinosis, characterized by ectopic mineralization of skin, is caused by mutations in the SAMD9 gene located on human chromosome 7q21, next to a paralogous gene, SAMD9-like (SAMD9L). Mouse does not have a SAMD9 orthologue, Samd9, because it has been deleted during...

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Autors principals: Li, Qiaoli, Guo, Haitao, Matsui, Hirotaka, Honda, Hiroaki, Inaba, Toshiya, Sundberg, John P., Sprecher, Eli, Uitto, Jouni
Format: Artigo
Idioma:Inglês
Publicat: 2012
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3381902/
https://ncbi.nlm.nih.gov/pubmed/22716256
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1600-0625.2012.01524.x
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