Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.

Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L
Nature. 1995 376 (6541): 584-7

PMID: 7637805 · DOI:10.1038/376584a0

MeSH Terms (12)

Amino Acid Sequence Base Sequence Brain Chromosomes, Human, Pair 1 DNA Primers Humans Lymphocytes Molecular Sequence Data Mutation Neuronal Ceroid-Lipofuscinoses Palmitoyl-CoA Hydrolase Restriction Mapping

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