Article
An EHPB1L1 Nonsense Mutation Associated with Congenital Dyserythropoietic Anemia and Polymyopathy in Labrador Retriever Littermates.
Genes - 11 Aug 2022
Shelton G Diane, Minor Katie M, Guo Ling T, Thomas-Hollands Alison, Walsh Koranda A, Friedenberg Steven G, Cullen Jonah N, Mickelson James R
Abstract excerpt
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 been described in English Springer Spaniel littermates with an early onset of anemia, megaesophagus, generalized...
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