An EHPB1L1 Nonsense Mutation Associated with Congenital Dyserythropoietic Anemia and Polymyopathy in Labrador Retriever Littermates

In this report, we describe a novel genetic basis for congenital dyserythropoietic anemia and polymyopathy in Labrador Retriever littermates characterized by incidental detection of marked microcytosis, inappropriate metarubricytosis, pelvic limb weakness and muscle atrophy. A similar syndrome has b...

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Detalles Bibliográficos
Autores principales: Shelton, G. Diane, Minor, Katie M., Guo, Ling T., Thomas-Hollands, Alison, Walsh, Koranda A., Friedenberg, Steven G., Cullen, Jonah N., Mickelson, James R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9407898/
https://www.ncbi.nlm.nih.gov/pubmed/36011338
http://dx.doi.org/10.3390/genes13081427

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9407898/
https://www.ncbi.nlm.nih.gov/pubmed/36011338
http://dx.doi.org/10.3390/genes13081427

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