An Ethyl-Nitrosourea-Induced Point Mutation in Phex Causes Exon Skipping, X-Linked Hypophosphatemia, and Rickets

We describe the clinical, genetic, biochemical, and molecular characterization of a mouse that arose in the first generation (G(1)) of a random mutagenesis screen with the chemical mutagen ethyl-nitrosourea. The mouse was observed to have skeletal abnormalities inherited with an X-linked dominant pa...

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Autores principales: Carpinelli, Marina R., Wicks, Ian P., Sims, Natalie A., O’Donnell, Kristy, Hanzinikolas, Katherine, Burt, Rachel, Foote, Simon J., Bahlo, Melanie, Alexander, Warren S., Hilton, Douglas J.
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Investigative Pathology 2002
Materias:
Animal Model
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1850771/
https://ncbi.nlm.nih.gov/pubmed/12414538
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