Genetics of cystic fibrosis.

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).

authors

Lommatzsch ST,Aris R

doi

10.1055/s-0029-1238911

subject

Has Abstract

pub_date

2009-10-01 00:00:00

pages

531-8

issue

5

eissn

1069-3424

issn

1098-9048

journal_volume

30

pub_type

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