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The initial report was of a homozygous missense mutation in exon 15, encoding the critical SH2 domain leading to aberrant folding and aggregation of the protein
Histone exchange, chromatin structure and the regulation of transcription
doi: 10.1021/acsomega.8b02287
Zhou S, Ma Y, Liu X, Yu P, Huang N, Song L, et al
Reticulocytes were measured in 12/13 dogs and were elevated in all 12 of them, although, in 2 dogs (Dog 2 and Dog 4), they were only mildly elevated
