The Importance of Genetic Study in Cystic Fibrosis
<p>Cystic fibrosis (CF) is the most common and fatal autosomal recessive genetic disease in euro-descendents. It affects about 85,000 people worldwide [1]. It is characterized by multiple and systemic clinical manifestations that primarily affect exocrine sweat glands, lungs ...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Book |
| Published: |
Archives of Pulmonology and Respiratory Care - Peertechz Publications,
2017-10-16.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Summary: | <p>Cystic fibrosis (CF) is the most common and fatal autosomal recessive genetic disease in euro-descendents. It affects about 85,000 people worldwide [1]. It is characterized by multiple and systemic clinical manifestations that primarily affect exocrine sweat glands, lungs and pancreas while presenting great variability in its severity [2]. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene(CFTRgene), which encodes the cystic fibrosis transmembrane regulatory protein (CFTR), located on chromosome 7 (locus7q31), leading to the absence or loss of CFTR function which, under normal conditions, acts as a chloride channel [3].</p> |
|---|---|
| DOI: | 10.17352/aprc.000029 |