Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele
AUTOR(ES)
Polizzi, Angela, Tesse, Riccardina, Santostasi, Teresa, Diana, Anna, Manca, Antonio, Logrillo, Vito Paolo, Cazzato, Maria Domenica, Pantaleo, Maria Giuseppa, Armenio, Lucio
FONTE
Genetics and Molecular Biology
DATA DE PUBLICAÇÃO
2011
RESUMO
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 inherited in trans in a wide population of 289 Caucasian CF subjects from South Italy. The genotype-phenotype relationship in patients bearing this complex allele was investigated. The two associated mutations were related to classical severe CF phenotypes.
Documentos Relacionados
- Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W.
- Genotype-phenotype correlation in L1 associated diseases.
- Genotype-phenotype correlation in five cystic fibrosis patients homozygous for the 621 + 1G-->T mutation.
- Genotype-phenotype correlation in multiple endocrine neoplasia type 2
- Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations.
