Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R; H949L] allele
Genet. mol. biol
; 34(3): 416-420, 2011. graf, tab
Artigo
em Inglês
| LILACS
| ID: lil-595996
Biblioteca responsável:
BR1.1
ABSTRACT
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.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Fenótipo
/
Fibrose Cística
/
Alelos
/
Genótipo
Limite:
Adolescente
/
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Genet. mol. biol
Assunto da revista:
Genética
Ano de publicação:
2011
Tipo de documento:
Artigo
País de afiliação:
Itália
Instituição/País de afiliação:
S. Caterina Novella Hospital/IT
/
University of Bari/IT