1. POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
- Author
-
Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, Dieguez J, Valanne L, Joensuu T, and Lehesjoki AE
- Subjects
- Abnormalities, Multiple pathology, Adolescent, Adult, Brain physiopathology, Child, Child, Preschool, DNA Mutational Analysis, Exons genetics, Eye Abnormalities physiopathology, Female, Finland, Founder Effect, Haplotypes genetics, Humans, Infant, Infant, Newborn, Introns genetics, Male, Muscular Dystrophies congenital, Muscular Dystrophies physiopathology, Phenotype, Polymorphism, Single Nucleotide genetics, Abnormalities, Multiple genetics, Abnormalities, Multiple physiopathology, Brain abnormalities, Eye Abnormalities genetics, Muscular Dystrophies genetics, Mutation genetics, N-Acetylglucosaminyltransferases genetics
- Published
- 2004
- Full Text
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