Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism-Reference-Cited by-同舟云学术

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Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism

Published:2004 Issue:12 Volume:24 Page:981-983
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat. Diagn.

Author:

D'Apice Maria Rosaria,Gambardella Stefano,Russo Silvia,Lucidi Vincenzina,Nardone Anna Maria,Pietropolli Adalgisa,Novelli Giuseppe

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Reference9 articles.

1. Identification of Three Novel Cystic Fibrosis Mutations in a Sample of Italian Cystic Fibrosis Patients

2. Detection of Five Rare Cystic Fibrosis Mutations Peculiar to Southern Italy: Implications in Screening for the Disease and Phenotype Characterization for Patients with Homozygote Mutations

3. Optimized Detection of DNA Point Mutations by Double Gradient Denaturing Gradient Gel

4. Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy

5. Description of a symptomless cystic fibrosis L346P/M348K compound heterozygous Cypriot individual

Cited by 4 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. Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis;Case Reports in Genetics;2015

2. Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration?;European Journal of Pediatrics;2012-01-25

3. Diagnostic CFTR mutation analysis;Expert Opinion on Medical Diagnostics;2008-02

4. Current awareness in prenatal diagnosis;Prenatal Diagnosis;2005

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