No abstract available
Publication types
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Case Reports
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Alleles
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Antithrombins / blood*
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Biopsy
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Congenital Disorders of Glycosylation / diagnosis*
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Congenital Disorders of Glycosylation / genetics*
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Congenital Disorders of Glycosylation / therapy
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DNA Mutational Analysis
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Female
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Genetic Association Studies
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Genetic Predisposition to Disease
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Glycosylation
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Humans
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Intestines / pathology
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Male
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Mannose-6-Phosphate Isomerase / genetics*
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Middle Aged
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Mutation*
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Pedigree
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Phenotype*
Substances
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Antithrombins
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Mannose-6-Phosphate Isomerase