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POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
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POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. J Med Genet. 2004 Oct; 41(10):e115.
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PubMed
subject areas
Abnormalities, Multiple
Adolescent
Adult
Brain
Child
Child, Preschool
DNA Mutational Analysis
Exons
Eye Abnormalities
Female
Finland
Founder Effect
Haplotypes
Humans
Infant
Infant, Newborn
Introns
Male
Muscular Dystrophies
Mutation
N-Acetylglucosaminyltransferases
Phenotype
Polymorphism, Single Nucleotide
authors with profiles
William B. Dobyns