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

doi:10.1038/376584a0

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Article

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

Nature - 17 Aug 1995

Vesa J, Hellsten E, Verkruyse L A, Camp L A, Rapola J, Santavuori P, Hofmann S L, Peltonen L

Abstract excerpt

Neuronal ceroid lipofuscinoses (NCL) represent a group of common progressive encephalopathies of children which have a global incidence of 1 in 12,500. These severe brain diseases are divided into three autosomal recessive subtypes, assigned to different chromosomal loci. The infantile subtype of...

Topics

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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