Abstract:
:Cystic fibrosis (CF) is a complicated disease involving many organ systems. Identification of the cystic fibrosis transmembrane regulator (CFTR) genetic code has not only enhanced our understanding of the mechanism of CF pathology but has also provided explanations for phenotypic variation. Additionally, genetic testing has refined our ability to identify patients with CF and CF-related illnesses. Genetic mutations may be grouped by class (I-VI) and are directly related to the quantity of CFTR protein produced. This has direct implications regarding the severity of disease and has suggested organ-specific sensitivity to the presence of normally functioning CFTR. Further, it has improved understanding of the mechanism behind seemingly organ-specific manifestations of CF, such as congenital bilateral absence of the vas deferens (CBVAD).
journal_name
Semin Respir Crit Care Medjournal_title
Seminars in respiratory and critical care medicineauthors
Lommatzsch ST,Aris Rdoi
10.1055/s-0029-1238911subject
Has Abstractpub_date
2009-10-01 00:00:00pages
531-8issue
5eissn
1069-3424issn
1098-9048journal_volume
30pub_type
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abstract:: ...
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