A Clinical and Molecular Survey of 62 Cystic Fibrosis Patients from Umbria (Central Italy) Disclosing a High Frequency (2.4%) of the 2184insA Allele: Implications for Screening.

Paolo Prontera,Ilenia Isidori,Valeria Mencarini,Guido Pennoni,Amedea Mencarelli,Gabriela Stangoni,Giuseppe Di Cara,Alberto Verrotti

A Clinical and Molecular Survey of 62 Cystic Fibrosis Patients from Umbria (Central Italy) Disclosing a High Frequency (2.4%) of the 2184insA Allele: Implications for Screening.

2016

Paolo Prontera
Ilenia Isidori
Valeria Mencarini
Guido Pennoni
Amedea Mencarelli
Gabriela Stangoni
Giuseppe Di Cara
Alberto Verrotti

Genetic testing strategies and counseling in cystic fibrosis (CF) can be problematic due to its extreme allelic heterogeneity and the difficult clinical interpretation of rare variants. Since in a pre

Keywords:

Cystic fibrosis
Genetic testing
Allele
Pathology
Allelic heterogeneity
Medicine
Gynecology
Bioinformatics
Genetics

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