Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele-Reference-Cited by-同舟云学术

Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele

Published:2011 Issue:3 Volume:34 Page:416-420
ISSN:1415-4757
Container-title:Genetics and Molecular Biology
language:
Short-container-title:Genet. Mol. Biol.

Author:

Polizzi Angela¹,Tesse Riccardina¹,Santostasi Teresa¹,Diana Anna¹,Manca Antonio¹,Logrillo Vito Paolo¹,Cazzato Maria Domenica²,Pantaleo Maria Giuseppa¹,Armenio Lucio¹

Affiliation:

1. University of Bari, Italy

2. S. Caterina Novella Hospital, Italy

Publisher

FapUNIFESP (SciELO)

Subject

Genetics,Molecular Biology

Link

http://www.scielo.br/pdf/gmb/v34n3/a08v34n3.pdf

Reference47 articles.

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2. G551D and G1349D, two CF-associated mutations in the signature sequences of CFTR, exhibit distinct gating defects;Bompadre SG;J Gen Physiol,2007

3. Non classic cystic fibrosis and CFTR-related diseases;Boyle MP;Curr Opin Pulm Med,2003

4. The value of serum IgG titres against Pseudomonas aeruginosa in the management of early infection in cystic fibrosis;Brett MM;Arch Dis Child,1992

5. Outcome of intracytoplasmic sperm injection for a couple in which the man is carrier of [R74W;V201M;D1270N] and P841N mutations and his spouse a heterozygous carrier of F508del mutation of CFTR gene;Brugnon F;Fertil Steril,2004

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