Genetics and Molecular Biology | |
Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele | |
Angela Polizzi2  Riccardina Tesse2  Teresa Santostasi2  Anna Diana2  Antonio Manca2  Vito Paolo Logrillo2  Maria Domenica Cazzato1  Maria Giuseppa Pantaleo2  Lucio Armenio2  | |
[1] ,University of Bari Pediatric Unit S. Maggiore Apulian Referral Center for Cystic FibrosisBari,Italy | |
关键词: CFTR; complex allele; cystic fibrosis; phenotype; | |
DOI : 10.1590/S1415-47572011000300008 | |
来源: SciELO | |
【 摘 要 】
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.
【 授权许可】
CC BY
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