【摘 要】
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Ataxia-telangiectasia (AT) is an inherited autosomal recessive disorder caused by mutations in the ATM (ataxia-telangiectasia mutated) gene.In spite of progressive neurological dysfunction, especially
【机 构】
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Children's Memorial Health Institute,Poland
【出 处】
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The 16th Ataxia-Telangiectasia Workshop (ATW-2015)6th Intern
论文部分内容阅读
Ataxia-telangiectasia (AT) is an inherited autosomal recessive disorder caused by mutations in the ATM (ataxia-telangiectasia mutated) gene.In spite of progressive neurological dysfunction, especially in the cerebellum, and ocular and cutaneous telangiectasias, it has a broad spectrum of other serious clinical symptoms including recurrent infections of the respiratory tract, chronic lung diseases, granulomatous infiltrations, autoimmune diseases and lymphomas.
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