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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:BMC Vet Res
Päätekijät: Guo, Juyuan, O’Brien, Dennis P, Mhlanga-Mutangadura, Tendai, Olby, Natasha J, Taylor, Jeremy F, Schnabel, Robert D, Katz, Martin L, Johnson, Gary S
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2015
Aiheet:
Case Report
Linkit: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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