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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Child
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Child, Preschool
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Codon, Nonsense / genetics
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Codon, Terminator / genetics
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Consanguinity
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DNA Mutational Analysis
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Exons / genetics
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Female
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Ghana
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Histiocytosis, Non-Langerhans-Cell / genetics*
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Histiocytosis, Non-Langerhans-Cell / pathology
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Humans
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Infant
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Italy
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Male
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Membrane Glycoproteins / chemistry
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Membrane Glycoproteins / genetics*
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Mutation / genetics*
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Mutation, Missense / genetics
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Perforin
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Pore Forming Cytotoxic Proteins
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Protein Structure, Tertiary
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Treatment Outcome
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Turkey
Substances
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Codon, Nonsense
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Codon, Terminator
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Membrane Glycoproteins
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Pore Forming Cytotoxic Proteins
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Perforin