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| Title |
Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants
|
|---|---|
| Published in |
The Application of Clinical Genetics, March 2016
|
| DOI | 10.2147/tacg.s78241 |
| Pubmed ID | |
| Authors |
Karen Sánchez, Elizabeth de Mendonca, Xiorama Matute, Ismenia Chaustre, Marlene Villalón, Howard Takiff |
| Abstract |
The mutations in the CFTR gene found in patients with cystic fibrosis (CF) have geographic differences, but there are scant data on their prevalence in Venezuelan patients. This study determined the frequency of common CFTR gene mutations in a group of Venezuelan patients with CF. The 27 exons of the CFTR gene from 110 Venezuelan patients in the National CF Program were amplified and sequenced. A total of 36 different mutations were identified, seven with frequencies greater than 1%: p.Phe508del (27.27%), p.Gly542* (3.18%), c.2988+1G>A (3.18%), p.Arg334Trp (1.36%), p.Arg1162* (1.36%), c.1-8G>C (1.36%), and p.[Gly628Arg;Ser1235Arg](1.36). In 40% of patients, all with a clinical diagnosis of CF, no mutations were found. This report represents the largest cohort of Venezuelan patients with CF ever examined, and includes a wider mutation panel than has been previously studied in this population. Mutations common in Southern European populations predominate, and several new mutations were discovered, but no mutations were found in 40% of the cohort. |
X Demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Brazil | 1 | 33% |
| Ecuador | 1 | 33% |
| United States | 1 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 3 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 22 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 22 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 5 | 23% |
| Student > Bachelor | 4 | 18% |
| Other | 3 | 14% |
| Student > Master | 3 | 14% |
| Student > Ph. D. Student | 2 | 9% |
| Other | 3 | 14% |
| Unknown | 2 | 9% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 8 | 36% |
| Medicine and Dentistry | 6 | 27% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 5% |
| Unspecified | 1 | 5% |
| Nursing and Health Professions | 1 | 5% |
| Other | 1 | 5% |
| Unknown | 4 | 18% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 02 May 2016.
All research outputs
#15,995,084
of 25,748,735 outputs
Outputs from The Application of Clinical Genetics
#1
of 1 outputs
Outputs of similar age
#164,725
of 313,473 outputs
Outputs of similar age from The Application of Clinical Genetics
#1
of 1 outputs
Altmetric has tracked 25,748,735 research outputs across all sources so far. This one is in the 36th percentile – i.e., 36% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1 research outputs from this source. They receive a mean Attention Score of 1.8. This one scored the same or higher as 0 of them.
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