Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease [1]

Journal of Neurology

Volumn 247, Issue 11, 2000, Pages 875-877

  Selleri, S ^a   Torchiana, E ^a   Pareyson, D ^a   Lulli, L ^a   Bertagnolio, B ^a   Savoiardo, M ^a   Farina, L ^a   Carrara, F ^a   Filocamo, M ^b   Gatti, R ^b   Sghirlanzoni, A ^a   Uziel, G ^a   Finocchiaro, G ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b G GASLINI INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSYLCERAMIDASE; NUCLEOTIDE; RESTRICTION ENDONUCLEASE;

ADOLESCENT; ADULT; AUTOSOMAL RECESSIVE DISORDER; CACHEXIA; CHILD; CLINICAL ARTICLE; COLORIMETRY; CONTROLLED STUDY; ENZYME ACTIVITY; EXON; FEMALE; GAIT DISORDER; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GLOBOID CELL LEUKODYSTROPHY; HEARING IMPAIRMENT; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; LETTER; MALE; MUSCLE RIGIDITY; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; PARAPLEGIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; BRAIN; EXONS; FEMALE; GALACTOSYLCERAMIDASE; GENE DELETION; HUMANS; LEUKODYSTROPHY, GLOBOID CELL; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; TIME FACTORS;

EID: 0033666004     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004150070076     Document Type: Letter

References (13)

1. Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications
2. A practical chromogenic procedure for the diagnosis of Krabbe's disease
3. Adult onset Krabbe's leukodystrophy: A report of 2 cases
4. Characterization of the large deletion in the GALC gene found in patients with Krabbe disease
5. Molecular defects in Krabbe disease
6. Molecular basis of late-life globoid cell leukodystrophy
7. Molecular heterogeneity of lateonset forms of globoid cell leukodystrophy
8. Molecular Genetics of late-onset Krabbe disease
9. Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene
10. Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease
11. Adult onset globoid cell leukodystrophy (Krabbe disease): Analysis of galactosylceramidase cDNA from four Japanese patients
12. A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease
13. Galactosylceramide lipidosis: Globoid-cell Leukodystrophy (Krabbe disease)