Phenotypic Characterization of the c.1679+1643G>T (1811+1643G>T) Mutation in Hispanic Cystic Fibrosis Patients

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Phenotypic Characterization of the c.1679+1643G>T (1811+1643G>T) Mutation in Hispanic Cystic Fibrosis Patients

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scientific article published on 03 July 2018

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wetenschappelijk artikel

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наукова стаття, опублікована в липні 2018

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name

Phenotypic Characterization of ...... panic Cystic Fibrosis Patients

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Phenotypic Characterization of the c.1679+1643G>T

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Item

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Phenotypic Characterization of ...... panic Cystic Fibrosis Patients

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Phenotypic Characterization of the c.1679+1643G>T

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Phenotypic Characterization of ...... panic Cystic Fibrosis Patients

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Phenotypic Characterization of the c.1679+1643G>T

@nl

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Phenotypic Characterization of ...... panic Cystic Fibrosis Patients

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Eglal Shalaby-Rana

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Iman Sami-Zakahri

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Reka Kovacs

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Silvia Delgado-Villata

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Cystic fibrosis.

Comparison of the clinical manifestations of cystic fibrosis in black and white patients.

Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients

Disease modifying genes in cystic fibrosis.

Clinical scoring systems in cystic fibrosis.

A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.

A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients.

Evaluating the "Leeds criteria" for Pseudomonas aeruginosa infection in a cystic fibrosis centre.

Cystic fibrosis: a system for assessing and predicting progression.

P304

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scholarly article

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10.3390/CHILDREN5070091

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English

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Hani K Fanous

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2018-07-03T00:00:00Z

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29970830

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6068721

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