Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele
| Autor: | Lucio Armenio, Maria Giuseppa Pantaleo, Antonio Manca, Vito Paolo Logrillo, Riccardina Tesse, Angela Polizzi, Anna Diana, Teresa Santostasi, Maria Domenica Cazzato |
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| Rok vydání: | 2011 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities lcsh:QH426-470 phenotype Short Communication complex allele Population Biology Gene mutation medicine.disease_cause Cystic fibrosis cystic fibrosis Exon Genetics medicine CFTR Allele education Molecular Biology education.field_of_study Mutation medicine.disease Phenotype Cystic fibrosis transmembrane conductance regulator lcsh:Genetics Human and Medical Genetics biology.protein |
| Zdroj: | Genetics and Molecular Biology, Volume: 34, Issue: 3, Pages: 416-420, Published: 2011 Genetics and Molecular Biology Genetics and Molecular Biology, Vol 34, Iss 3, Pp 416-420 (2011) |
| ISSN: | 1415-4757 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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