Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism.
Coulter-Mackie
M B
MB
Rip
J
J
Beis
M J
MJ
Ferreira
P
P
Ludman
M D
MD
D000293:Adolescent; D017668:Age of Onset; D000483:Alleles; D002478:Cells, Cultured; D002553:Cerebroside-Sulfatase / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002678:Chimera / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D005260:Female; D005347:Fibroblasts; D006579:Heterozygote; D006801:Humans; D007621:Karyotyping; D007962:Leukocytes; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics*; D009679:Nuclear Family; D010375:Pedigree; D013094:Spermatozoa / Q000502:physiology*
D002553:Cerebroside-Sulfatase