Heterogeneity of the cystic fibrosis phenotype in a large kindred family in Qatar with cystic fibrosis mutation (I1234V).
J Trop Pediatr
; 47(2): 110-2, 2001 04.
Article
em En
| MEDLINE
| ID: mdl-11336127
ABSTRACT
Twenty-nine subjects (17 families) with cystic fibrosis belonging to the same Bedouin tribe were screened for cystic fibrosis transmembrane regulator gene mutations (CFTR). Homozygous I1234V mutation in exon 19 was identified in all families with a relatively high rate of consanguinity (96.6 per cent). The homozygous I1234V mutation tended to present with a variable degree of pulmonary disease, pancreatic insufficiency and electrolyte imbalance. Homozygous I1234V was found to be a common mutation in the studied Bedouin tribe in Qatar.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fibrose Cística
/
Genética Populacional
Idioma:
En
Ano de publicação:
2001
Tipo de documento:
Article