Identification of a de novo mutation in SPG11.
Denora
Paola S
PS
Brockmann
Knut
K
Ciccolella
Marianna
M
Truchetto
Jeremy
J
Stevanin
Giovanni
G
Santorelli
Filippo M
FM
D000293:Adolescent; D001284:Atrophy / Q000150:complications; D002648:Child; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics; D003337:Corpus Callosum / Q000473:pathology*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D010264:Paraplegia / Q000150:complications* / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D055815:Young Adult
D011506:Proteins; C520412:SPG11 protein, human