3849 + 10 kb C --> T splicing mutation in Hispanic CF patients.
Mol Genet Metab
; 64(3): 213-6, 1998 Jul.
Article
em En
| MEDLINE
| ID: mdl-9719631
Seven patients compound heterozygous for the 3849 + 10kb C --> T mutation in the CFTR gene were found among the 152 patients attending the CHLA CF Clinic. The frequency of this mutation accounts for 2.3 and 3.9% of thetotal and Hispanic CF alleles of CHLA patients. These are significantly higher than the 0.6% of the general CF population. The average age of diagnosis of this group of Hispanics is 3.1 years, which is much younger than that reported for CF patients of other ethnicities with the same mutation. Both pancreatic sufficient and pancreatic insufficient patients were observed. It is concluded that the 3849 + 10kb C --> T mutation is associated with a variable but potentially mild type of CF.
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Base de dados:
MEDLINE
Assunto principal:
Hispânico ou Latino
/
Splicing de RNA
/
Regulador de Condutância Transmembrana em Fibrose Cística
/
Fibrose Cística
/
Mutação
Tipo de estudo:
Etiology_studies
Limite:
Adult
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Ano de publicação:
1998
Tipo de documento:
Article