Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation.
Mariarosaria
M
Cozzolino
Bartolomeo
B
Augello
Massimo
M
Carella
Orazio
O
Palumbo
Barbara
B
Tavazzi
Angela Maria
AM
Amorini
Giuseppe
G
Lazzarino
Giuseppe
G
Merla
Nicola
N
Brunetti-Pierri
D000581:Amidohydrolases / Q000235:genetics; D017825:Canavan Disease / Q000175:diagnosis* / Q000235:genetics*; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D005260:Female; D018628:Gene Dosage; D005808:Genes, Recessive; D055106:Genome-Wide Association Study; D006801:Humans; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D058496:Smith-Magenis Syndrome
D000581:Amidohydrolases; C019751:aspartoacylase