No abstract available
Publication types
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / enzymology*
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Abnormalities, Multiple / genetics*
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Base Sequence
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DNA Mutational Analysis
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Ethnicity / genetics
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Exons / genetics*
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Family
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Homozygote*
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Humans
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Immunohistochemistry
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Mannosyltransferases / genetics*
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Molecular Sequence Data
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Muscles / pathology
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Mutation / genetics*
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Spain
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Syndrome
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White People / genetics*
Substances
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Mannosyltransferases
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protein O-mannosyltransferase