Novel de Novo Large Deletion in Cystic Fibrosis Transmembrane Conductance Regulator Gene Results in a Severe Cystic Fibrosis Phenotype-Reference-Cited by-同舟云学术

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Novel de Novo Large Deletion in Cystic Fibrosis Transmembrane Conductance Regulator Gene Results in a Severe Cystic Fibrosis Phenotype

Published:2011-08 Issue:2 Volume:159 Page:343-346.e1
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Norek Aleksandra,Stremska Marta,Sobczyńska-Tomaszewska Agnieszka,Wertheim-Tysarowska Katarzyna,Dmeńska Hanna,Jurek Marta

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference11 articles.

1. The phenotypic consequences of CFTR mutations;Rowntree;Ann Hum Genet,2003

2. Detection of a de novo R1066H mutation in an Italian patient affected by cystic fibrosis;Cremonesi;Hum Genet,1996

3. A de novo cystic fibrosis mutation: CGA (Arg) to TGA (stop) at codon 851 of the CFTR gene;White;Genomics,1991

4. High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes;Casals;Hum Genet,1997

5. A simple salting out procedure for extracting DNA from human nucleated cells;Miller;Nucleic Acids Res,1988

Cited by 5 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. Identification and in silico structural analysis for the first de novo mutation in the cystic fibrosis transmembrane conductance regulator protein in Iran: case report and developmental insight using microsatellite markers;Therapeutic Advances in Respiratory Disease;2024-01

2. Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report;BMC Medical Genomics;2019-05-22

3. A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants;Journal of Cystic Fibrosis;2016-05

4. Clinical Phenotypes and Genotypic Spectrum of Cystic Fibrosis in Chinese Children;The Journal of Pediatrics;2016-04

5. De novomutation in theKCNQ1gene causal to Jervell and Lange-Nielsen syndrome;Clinical Genetics;2013-11-14

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