No abstract available
Publication types
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Multicenter Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Brain / abnormalities
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Codon, Nonsense / genetics*
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Eye Abnormalities / genetics*
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Female
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Humans
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Infant
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Male
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Membrane Proteins
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Muscular Dystrophies / congenital
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Muscular Dystrophies / genetics*
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Pedigree
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Phenotype
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Proteins / genetics*
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Syndrome
Substances
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Codon, Nonsense
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FKTN protein, human
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Membrane Proteins
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Proteins