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 ...
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Archives of Pulmonology and Respiratory Care - Peertechz Publications,
2017-10-16.
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| LEADER | 00000 am a22000003u 4500 | ||
|---|---|---|---|
| 001 | peertech__10_17352_aprc_000029 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Laís Ribeiro Mota |e author |
| 700 | 1 | 0 | |a Renata Lúcia Leite Ferreira de Lima |e author |
| 700 | 1 | 0 | |a Edna Lúcia Souza |e author |
| 245 | 0 | 0 | |a The Importance of Genetic Study in Cystic Fibrosis |
| 260 | |b Archives of Pulmonology and Respiratory Care - Peertechz Publications, |c 2017-10-16. | ||
| 520 | |a <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> | ||
| 540 | |a Copyright © Laís Ribeiro Mota et al. | ||
| 546 | |a en | ||
| 655 | 7 | |a Letter to Editor |2 local | |
| 856 | 4 | 1 | |u https://doi.org/10.17352/aprc.000029 |z Connect to this object online. |