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POMGnT1 gene alterations in a family with neurological abnormalities.
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POMGnT1 gene alterations in a family with neurological abnormalities.
POMGnT1 gene alterations in a family with neurological abnormalities. Ann Neurol. 2004 Jul; 56(1):143-8.
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PubMed
subject areas
Brain
Child
Chromosome Mapping
Congenital Abnormalities
DNA Mutational Analysis
Eye Abnormalities
Female
Humans
Infant
Infant, Newborn
Magnetic Resonance Imaging
Male
Muscle Hypotonia
Muscle, Skeletal
Mutation, Missense
N-Acetylglucosaminyltransferases
Pedigree
authors with profiles
Kenton R. Holden