Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation
Author:
Affiliation:
1. Área de Biología Molecular; NETLAB Laboratorios Especializados; Quito Ecuador
2. Departamento de Ciencias de la Vida y la Agricultura; Grupo de Investigación en Sanidad Animal y Humana; Universidad de las Fuerzas Armadas ESPE; Sangolqui Ecuador
Funder
NETLAB
Publisher
Wiley
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.337/fullpdf
Reference22 articles.
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2. Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening;Bobadilla;Hum. Mutat.,2002
3. Collazo , T. 2008 Revista Cubana de Medicina General Integral http://www.bvs.sld.cu/revistas/ibi/vol27_2_08/ibi04208.htm
4. Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation;De Braekeleer;Hum. Genet.,1997
5. Genotype/phenotype correlation of the G85E mutation in a large cohort of cystic fibrosis patients;Decaestecker;Eur. Respir. J.,2004
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