Clinical Manifestations of a New Alpha‐1 Antitrypsin Genetic Variant: Q0parma
Respirology case reports(2022)
摘要
Alpha-1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. Several mutations of SERPINA1 have been described associated with the development of pulmonary emphysema and/or chronic liver disease and cirrhosis. Here, we report a very rare PI*Q0parma variant identified for the first time in an Italian family originally from the city of Parma in Northern Italy.
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关键词
alpha-1 antitrypsin deficiency,clinical manifestations,genotype,variant
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