Phenotypic variability of R117H-CFTR expression within monozygotic twins.
Paediatr Respir Rev
; 20 Suppl: 21-3, 2016 Aug.
Article
em En
| MEDLINE
| ID: mdl-27364092
ABSTRACT
Whilst cystic fibrosis is a monogenic condition, variation in phenotype exists for the same CFTR genotype, which is influenced by multiple genetic and non-genetic (environmental) factors. The R117H-CFTR mutation has variability directly relating to in cis poly-thymidine alleles, producing a differing spectrum of disease. This paper provides evidence of extreme phenotype variability - including fertility status - in the context of male monogenetic twins, discussing mechanisms and highlighting the diagnostic and treatment challenges.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Gêmeos Monozigóticos
/
Regulador de Condutância Transmembrana em Fibrose Cística
Limite:
Humans
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Male
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article