A 439 kb-sized homozygous deletion in 17p13.3 leading to biallelic loss of the ASPA as cause of Canavan disease detected by SNP-array analysis.
Caliebe
A
A
Vater
I
I
Plendl
H
H
Gesk
S
S
Siebert
R
R
Cremer
F W
FW
Klein-Hitpass
L
L
D000483:Alleles; D000581:Amidohydrolases / Q000172:deficiency* / Q000235:genetics; D020029:Base Pairing / Q000235:genetics*; D017825:Canavan Disease / Q000201:enzymology / Q000235:genetics*; D002648:Child; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
D000581:Amidohydrolases; C019751:aspartoacylase