Advances in Human Genetics 1991
DOI: 10.1007/978-1-4684-5958-6_4
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Biochemical and Molecular Genetics of Cystic Fibrosis

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Cited by 85 publications
(27 citation statements)
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“…Cystic fibrosis (CF), 1 the most common fatal genetic disease is characterized by defective chloride transport across epithelia of the airways, exocrine ducts, and intestine as well as viscous epithelial mucous secretions (1)(2)(3). The mutated gene that causes CF encodes the cystic fibrosis transmembrane conductance regulator (CFTR) (3).…”
Section: Chloride Channels Play An Important Role In the Physiology Amentioning
confidence: 99%
See 1 more Smart Citation
“…Cystic fibrosis (CF), 1 the most common fatal genetic disease is characterized by defective chloride transport across epithelia of the airways, exocrine ducts, and intestine as well as viscous epithelial mucous secretions (1)(2)(3). The mutated gene that causes CF encodes the cystic fibrosis transmembrane conductance regulator (CFTR) (3).…”
Section: Chloride Channels Play An Important Role In the Physiology Amentioning
confidence: 99%
“…and fail to traffic to the plasma membrane, have a reduced conductance, or are incorrectly regulated by physiological stimuli (4, 9 -11). This disrupts the normal transport of salt, water, and proteins across epithelial tissues, which leads to the production of thickened secretory product and to progressive obstruction of secretory ducts leading to organ dysfunction (1,2).…”
Section: Chloride Channels Play An Important Role In the Physiology Amentioning
confidence: 99%
“…Hispanics, Blacks, and Asians are also affected, but in smaller numbers [4]. CF affects the liver, pancreas and intestinal tract but the major causes of morbidity and mortality are the lung disease [5].…”
Section: Introductionmentioning
confidence: 99%
“…It is a complicated multisystem disease that involves the respiratory tract, the male genital tracts, the hepatobiliary system, the endocrine system and the epithelium cells of the perspiratory glands. Additionally, the gene of the disease and the protein that is the product of the disease (Cystic Fibrosis Transmembrane Regulator Protein) and its functions are clearly defined [13][14][15]. Thus, it offers a good model in helping the students acquire both clinical and molecular knowledge.…”
Section: Discussionmentioning
confidence: 99%