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- W2019937898 endingPage "260" @default.
- W2019937898 startingPage "243" @default.
- W2019937898 abstract "Unlike asthma and chronic obstructive pulmonary disease (COPD), which are two of the most common chronic diseases that are attributed to complex interactions between the environment and multiple unknown genes, most respiratory disorders that show Mendelian inheritance patterns are relatively rare and are caused by genetic defects that have been well characterized. Cystic fibrosis (CF) is the most common among these monogenetic diseases. With the discovery of the gene for the CF transmembrane conductance regulator (CFTR), there has been a dramatic change in the understanding of the genetic defect and molecular mechanisms involved in CF. Together with α-1 antitrypsin (A-1AT) deficiency, CF has become the most intensively investigated monogenetic disorder and a prototype research model of human lung disease. Important knowledge of disease genes and associated molecular pathways has been derived from these disease models to better understand the development and progression of COPD. This article reviews the evidence in support of genetic causes of CF, A-1AT deficiency, and Hermansky-Pudlak syndrome. Although significant progress has been made in the field of Mendelian genetics in the past 2 decades, this progress in part has translated only into effective therapy, and the genetics of most complex disorders remain unresolved." @default.
- W2019937898 created "2016-06-24" @default.
- W2019937898 creator A5055778401 @default.
- W2019937898 creator A5088244425 @default.
- W2019937898 date "2002-05-01" @default.
- W2019937898 modified "2023-10-15" @default.
- W2019937898 title "Genetics of obstructive airways disease" @default.
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