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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4298050/
https://www.ncbi.nlm.nih.gov/pubmed/25551667
http://dx.doi.org/10.1186/s12917-014-0181-z

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