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Challenging the diagnosis of Cystic Fibrosis in a patient carrying the 186-8T/C allelic variant in the CF Transmembrane Conductance Regulator gene

Overview of attention for article published in BMC Pulmonary Medicine, March 2014
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3 X users

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Title
Challenging the diagnosis of Cystic Fibrosis in a patient carrying the 186-8T/C allelic variant in the CF Transmembrane Conductance Regulator gene
Published in
BMC Pulmonary Medicine, March 2014
DOI 10.1186/1471-2466-14-44
Pubmed ID
Authors

Sara Caldrer, Genny Verzè, Jan Johansson, Claudio Sorio, Chiara Angiari, Mario Buffelli, Baroukh Maurice Assael, Paola Melotti

Abstract

This report describe for the first time a clinical case with a CFTR allelic variant 186-8T/C (c.54-8 T/C) in intron 1 of CFTR and underline the importance of applying a combination of genetic and functional tests to establish or exclude a diagnosis of Cystic Fibrosis. In this case the diagnostic algorithm proposed for CF has been successfully applied at our Center and previous CF diagnosis assigned in a different Center was not confirmed.

X Demographics

X Demographics

The data shown below were collected from the profiles of 3 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 17 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 6%
Unknown 16 94%

Demographic breakdown

Readers by professional status Count As %
Researcher 4 24%
Student > Master 3 18%
Student > Bachelor 2 12%
Student > Ph. D. Student 2 12%
Other 1 6%
Other 2 12%
Unknown 3 18%
Readers by discipline Count As %
Medicine and Dentistry 4 24%
Biochemistry, Genetics and Molecular Biology 1 6%
Mathematics 1 6%
Economics, Econometrics and Finance 1 6%
Computer Science 1 6%
Other 2 12%
Unknown 7 41%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 25 September 2014.
All research outputs
#15,295,786
of 22,747,498 outputs
Outputs from BMC Pulmonary Medicine
#1,075
of 1,904 outputs
Outputs of similar age
#131,106
of 221,235 outputs
Outputs of similar age from BMC Pulmonary Medicine
#27
of 41 outputs
Altmetric has tracked 22,747,498 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,904 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.4. This one is in the 34th percentile – i.e., 34% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 221,235 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 30th percentile – i.e., 30% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 41 others from the same source and published within six weeks on either side of this one. This one is in the 24th percentile – i.e., 24% of its contemporaries scored the same or lower than it.