Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum.
Lee
M-J
MJ
Cheng
T-W
TW
Hua
M-S
MS
Pan
M-K
MK
Wang
J
J
Stephenson
D A
DA
Yang
C-C
CC
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001284:Atrophy; D002540:Cerebral Cortex / Q000473:pathology; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D003241:Consanguinity; D003337:Corpus Callosum / Q000473:pathology*; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000469:parasitology
D011506:Proteins; C520412:SPG11 protein, human