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Phenotypic expression of the p.Leu1077Pro CFTR mutation in Sicilian cystic fibrosis patients

Overview of attention for article published in BMC Research Notes, November 2013
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Title
Phenotypic expression of the p.Leu1077Pro CFTR mutation in Sicilian cystic fibrosis patients
Published in
BMC Research Notes, November 2013
DOI 10.1186/1756-0500-6-461
Pubmed ID
Authors

Giuseppe Fabio Parisi, Silvia Cutello, Giovanna Di Dio, Novella Rotolo, Mario La Rosa, Salvatore Leonardi

Abstract

The p.Leu1077Pro CFTR mutation was firstly described in 1992 as a mild allele that confers a pancreatic sufficiency phenotype but the information collected in database CFTR2 lead to consider p.Leu1077Pro as a severe CF mutation. Although it is typical of Southern Italy, p.Leu1077Pro is not included in the mutation panel firstly tested in individuals originated from this area. The aim of our study was to describe prevalence and clinical features in patients bearing this mutation followed in our Cystic Fibrosis Centre to demonstrate that this mutation should be included in the mutation panel firstly tested in patients originated from Southern Italy.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 14 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 14 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 3 21%
Student > Postgraduate 3 21%
Student > Bachelor 2 14%
Other 2 14%
Researcher 2 14%
Other 1 7%
Unknown 1 7%
Readers by discipline Count As %
Medicine and Dentistry 6 43%
Veterinary Science and Veterinary Medicine 1 7%
Biochemistry, Genetics and Molecular Biology 1 7%
Agricultural and Biological Sciences 1 7%
Nursing and Health Professions 1 7%
Other 2 14%
Unknown 2 14%
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 03 September 2014.
All research outputs
#20,236,620
of 22,763,032 outputs
Outputs from BMC Research Notes
#3,559
of 4,262 outputs
Outputs of similar age
#185,060
of 212,469 outputs
Outputs of similar age from BMC Research Notes
#55
of 66 outputs
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