Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

Mutations in a newly described lysosomal enzyme, palmitoyl-protein thioesterase (PPT), were recently shown to be responsible for an autosomal recessive neurological disorder prevalent in Finland, infantile neuronal ceroid lipofuscinosis. The disease results in blindness, motor and cognitive deterior...

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Autores principales: Das, A K, Becerra, C H, Yi, W, Lu, J Y, Siakotos, A N, Wisniewski, K E, Hofmann, S L
Formato: Artigo
Lenguaje:Inglês
Publicado: 1998
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC508894/
https://ncbi.nlm.nih.gov/pubmed/9664077
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