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within Maki Urushihara Remove this filter Biomedicine, general Remove this filter Gene Function Remove this filter

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  1. Article

    Open Access

    Molecular 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...

    Keita Osumi, Kenichi Suga, Akemi Ono, Aya Goji, Tatsuo Mori… in Human Genome Variation (2020)

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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)...

    Koji Yasutomo, Takahiko Horiuchi, Shoji Kagami, Hiroshi Tsukamoto… in Nature Genetics (2001)