No abstract available
MeSH terms
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Adult
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Amyloidosis, Familial / diagnosis
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Amyloidosis, Familial / genetics*
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Codon, Nonsense
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DNA Mutational Analysis
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Exome Sequencing
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Exons / genetics
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Female
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Frameshift Mutation
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Heterozygote
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Humans
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Male
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Membrane Glycoproteins / genetics*
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Pedigree
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Skin Diseases, Genetic / diagnosis
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Skin Diseases, Genetic / genetics*
Substances
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Codon, Nonsense
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GPNMB protein, human
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Membrane Glycoproteins
Supplementary concepts
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Amyloidosis, Primary Cutaneous