Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R; H949L] allele
Genet. mol. biol
; 34(3): 416-420, 2011. graf, tab
Article
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| LILACS
| ID: lil-595996
Biblioteca responsable:
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
LILACS
Asunto principal:
Fenotipo
/
Fibrosis Quística
/
Alelos
/
Genotipo
Límite:
Adolescent
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Genet. mol. biol
Asunto de la revista:
GENETICA
Año:
2011
Tipo del documento:
Article
País de afiliación:
Italia