Phenotypic expression of genotype-phenotype correlation in cystic fibrosis patients carrying the 852del22 mutation

2005 ◽  
Vol 132A (4) ◽  
pp. 434-440 ◽  
Author(s):  
Angela Polizzi ◽  
Ruggiero Francavilla ◽  
Giuseppe Castaldo ◽  
Teresa Santostasi ◽  
Rossella Tomaiuolo ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Phenotypic Expression ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals 10 CFTR p.Leu206Trp mutation: genotype-phenotype correlation in 12 Spanish cystic fibrosis (CF) patients

2012 ◽  
Vol 11 ◽  
pp. S57
Author(s):  
S. Gartner ◽  
T. Casals ◽  
C. Martin ◽  
O. Asencio ◽  
A. Moreno ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals ePS01.3 Genotype–phenotype correlation in Russian cystic fibrosis patients with S466X–R1070Q complex allele

2015 ◽  
Vol 14 ◽  
pp. S42
Author(s):  
N. Petrova ◽  
N. Kashirskaya ◽  
R. Zinchenko ◽  
E. Timkovskaya ◽  
A. Voronkova ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

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

1997 ◽  
Vol 101 (2) ◽  
pp. 208-211 ◽  
Author(s):  
M. De Braekeleer ◽  
Christian Allard ◽  
Jean-Pierre Leblanc ◽  
Fernand Simard ◽  
Gervais Aubin
Keyword(s):  
Cystic Fibrosis ◽  
Compound Heterozygous ◽  
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Genotype Phenotype Correlation

Genotype-phenotype correlation in cystic fibrosis: The role of modifier genes

2002 ◽  
Vol 111 (1) ◽  
pp. 88-95 ◽  
Author(s):  
Francesco Salvatore ◽  
Olga Scudiero ◽  
Giuseppe Castaldo
Keyword(s):  
Cystic Fibrosis ◽  
Modifier Genes ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Characterisation of mutations and genotype–phenotype correlation in cystic fibrosis: Experience from India

2008 ◽  
Vol 7 (2) ◽  
pp. 110-115 ◽  
Author(s):  
Shivaram S. Shastri ◽  
Madhulika Kabra ◽  
Sushil Kumar Kabra ◽  
Ravindra M. Pandey ◽  
P.S.N. Menon
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Cystic Fibrosis ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals 21 Genotype–phenotype correlation of CFTR p.Leu206Trp mutation in 22 paediatric and adult cystic fibrosis (CF) patients

2013 ◽  
Vol 12 ◽  
pp. S53
Author(s):  
S. Gartner ◽  
J. de Gracia ◽  
A. Alvarez ◽  
T. Casals ◽  
S. Rovira ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles

2016 ◽  
Vol 54 (4) ◽  
pp. 224-235 ◽  
Author(s):  
Vito Terlizzi ◽  
Giuseppe Castaldo ◽  
Donatello Salvatore ◽  
Marco Lucarelli ◽  
Valeria Raia ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Phenotype Correlation ◽  
Functional Studies ◽  
Genotype Phenotype Correlation
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