A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis

BACKGROUND: The neuronal ceroid lipofuscinoses are heritable lysosomal storage diseases characterized by progressive neurological impairment and the accumulation of autofluorescent storage granules in neurons and other cell types. Various forms of human neuronal ceroid lipofuscinosis have been attri...

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Detalhes bibliográficos
Publicado no:BMC Vet Res
Main Authors: Guo, Juyuan, O’Brien, Dennis P, Mhlanga-Mutangadura, Tendai, Olby, Natasha J, Taylor, Jeremy F, Schnabel, Robert D, Katz, Martin L, Johnson, Gary S
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4298050/
https://ncbi.nlm.nih.gov/pubmed/25551667
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12917-014-0181-z
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