Article
Molecular defects in Krabbe disease.
Human molecular genetics - 1 Oct 1995
Tatsumi N, Inui K, Sakai N, Fukushima H, Nishimoto J, Yanagihara I, Nishigaki T, Tsukamoto H, Fu L, Taniike M
Abstract excerpt
Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive neurodegenerative disorder that affects both the central and peripheral nervous systems due to an enzymatic defect of the galactocerebrosidase. In this study, molecular defects in Krabbe disease were investigated in 11 patient...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Cell Line
- Cells, Cultured
- Child, Preschool
- Chlorocebus aethiops
- DNA Primers
- DNA Transposable Elements
- Galactosylceramidase
- Genetic Carrier Screening
- Homozygote
- Humans
- Infant
- Japan
- Leukodystrophy, Globoid Cell
- Molecular Sequence Data
- Mutation