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-Reference-Cited by-同舟云学术

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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

Published:2016 Issue:6 Volume:19 Page:336-341
ISSN:1662-4246
Container-title:Public Health Genomics
language:en
Short-container-title:Public Health Genomics

Author:

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

Publisher

S. Karger AG

Subject

Genetics(clinical),Public Health, Environmental and Occupational Health

Reference12 articles.

1. Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from North-Eastern Italy: identification of 90% of the mutations

2. Comprehensive Cystic Fibrosis Mutation Epidemiology and Haplotype Characterization in a Southern Italian Population

3. Preconceptional identification of cystic fibrosis carriers in the Sardinian population: A pilot screening program

4. Cystic fibrosis genetics: from molecular understanding to clinical application

5. Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Beyond Kaftrio : mechanistic insights to maximize N1303K-CFTR rescue;2024-03-03

2. Forskolin-induced swelling of intestinal organoids predicts long-term cystic fibrosis disease progression;2021-02-03

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