Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin

Journal of Inherited Metabolic Disease

Volumn 20, Issue 4, 1997, Pages 587-594

  Kleijer, W J ^a,c   Keulemans, J L M ^a   Van Der Kraan, M ^a   Geilen, G G ^a   Van Der Helm, R M ^a   Rafi, M A ^b   Luzi, P ^b   Wenger, D A ^b   Halley, D J J ^b   Van Diggelen, O P ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GALACTOSYLCERAMIDASE;

ALLELE; ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; EUROPE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GLOBOID CELL LEUKODYSTROPHY; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; NETHERLANDS; NUCLEIC ACID BASE SUBSTITUTION; PRENATAL DIAGNOSIS;

ALLELES; CELL LINE; DNA; DNA MUTATIONAL ANALYSIS; EUROPE; FIBROBLASTS; GENE DELETION; HAPLOTYPES; HETEROZYGOTE; HUMANS; LEUKODYSTROPHY, GLOBOID CELL; MUTATION; NETHERLANDS; POLYMORPHISM, GENETIC; SKIN;

EID: 8544276562     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005315311165     Document Type: Article

References (14)

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