Concepedia

Spectrum of <scp>CFTR</scp> gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation

Sofía C. Ortiz, Santiago J. Aguirre, Sofía Flores, Claudio Maldonado, Juan Diego Mejía, Lilian Salinas

Molecular Genetics & Genomic Medicine · 2017 · 17 citations · 14 references

DOIFull text

Open access

Abstract

The panel of mutations suggested as an initial screening for the Ecuadorian population with cystic fibrosis should contain the mutations: p.F508del, p.G85E, p.G330E, p.A455E, p.G970S, W1098X, R1162X, and N1303K.

References

14

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Scanning the Cystic Fibrosis Transmembrane Conductance Regulator Gene Using High-Resolution DNA Melting Analysis

Jesse Montgomery, Carl T. Wittwer, Jana Kent et al. · Clinical Chemistry · 2007 · 72 citations

CFTR gene analysis in Latin American CF patients: Heterogeneous origin and distribution of mutations across the continent

Martín M. Pérez, María Cecilia Luna, Omar H. Pivetta et al. · Journal of Cystic Fibrosis · 2006 · 63 citations · Full text

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Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation

Marc De Braekeleer, Christian Allard, Jean‐Pierre Leblanc et al. · Human Genetics · 1997 · 55 citations

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Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G→A)

Lorena Orozco, Rafael Velázquez, Julian Zielenski et al. · Human Genetics · 2000 · 37 citations

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