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

Cystic fibrosis (CF) is caused by CFTR (cystic fibrosis transmembrane conductance regulator) gene mutations. We ascertained five patients with a novel complex CFTR allele, with two mutations, H939R and H949L, inherited in cis in the same exon of CFTR gene, and one different mutation per patient inhe...

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Hlavní autoři: Polizzi, Angela, Tesse, Riccardina, Santostasi, Teresa, Diana, Anna, Manca, Antonio, Logrillo, Vito Paolo, Cazzato, Maria Domenica, Pantaleo, Maria Giuseppa, Armenio, Lucio
Médium: Artigo
Jazyk:Inglês
Vydáno: Sociedade Brasileira de Genética 2011
Témata:
Human and Medical Genetics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3168180/
https://ncbi.nlm.nih.gov/pubmed/21931512
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/S1415-47572011000300008
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