POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
C
C
Diesen
A
A
Saarinen
H
H
Pihko
C
C
Rosenlew
B
B
Cormand
W B
WB
Dobyns
J
J
Dieguez
L
L
Valanne
T
T
Joensuu
A-E
AE
Lehesjoki
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005387:Finland; D018703:Founder Effect; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007438:Introns / Q000235:genetics; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
D017351:N-Acetylglucosaminyltransferases; C443106:protein O-mannose beta-1,2-N-acetylglucosaminyltransferase