Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease.
Selleri
S
S
Torchiana
E
E
Pareyson
D
D
Lulli
L
L
Bertagnolio
B
B
Savoiardo
M
M
Farina
L
L
Carrara
F
F
Filocamo
M
M
Gatti
R
R
Sghirlanzoni
A
A
Uziel
G
G
Finocchiaro
G
G
D000328:Adult; D001921:Brain / Q000473:pathology; D005091:Exons; D005260:Female; D005698:Galactosylceramidase / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D013997:Time Factors
D005698:Galactosylceramidase