Abstract
This study identifies and characterizes a novel type of splicing mutation in RAD50 deficiency, a rare genetic disorder.
Keywords:
Cell biology; DNA repair; Genetic diseases; Genetics; RNA processing.
MeSH terms
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Acid Anhydride Hydrolases / genetics
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DNA Repair Enzymes / genetics
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DNA Repair Enzymes / metabolism
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DNA-Binding Proteins / genetics
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Exons*
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Female
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Humans
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Introns*
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Male
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Mutation*
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RNA Splicing
Substances
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Acid Anhydride Hydrolases
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DNA Repair Enzymes
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DNA-Binding Proteins
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RAD50 protein, human