No abstract available
Keywords:
LRBA homozygous mutation; Slavic family; germline mosaicism; multiple autoimmunity.
MeSH terms
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Adaptor Proteins, Signal Transducing / genetics*
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Biopsy
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Child, Preschool
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DNA Mutational Analysis
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Exome Sequencing
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Female
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Genetic Association Studies*
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Genetic Predisposition to Disease*
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Germ-Line Mutation
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Homozygote
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Humans
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Infant
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Male
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Mosaicism*
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Mutation*
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Pedigree
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Republic of Belarus
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Siblings
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Tomography, X-Ray Computed
Substances
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Adaptor Proteins, Signal Transducing
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LRBA protein, human