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Article
Open AccessMolecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome
A 1-month-old Japanese infant with cardiac rhabdomyoma was diagnosed with TSC2/PKD1 contiguous gene syndrome by targeted panel sequencing with subsequent quantitative polymerase chain reaction that revealed gross...
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Article
Mutation of DNASE1 in people with systemic lupus erythematosus
Systemic lupus erythematosus (SLE) is a highly prevalent human autoimmune diseases that causes progressive glomerulonephritis, arthritis and an erythematoid rash1,2. Mice deficient in deoxyribonuclease I (Dnase1)...