Article
3849 + 10 kb C --> T splicing mutation in Hispanic CF patients.
Molecular genetics and metabolism - 1 Jul 1998
Liang M H, Wertz K K, Bowman C M, Hsu E, Shapiro B, Wong L J
Abstract excerpt
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...
Topics
- Adult
- Age Factors
- Child
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Exocrine Pancreatic Insufficiency
- Female
- Genes, Recessive
- Genotype
- Heterozygote
- Hispanic or Latino
- Humans
- Male
- Middle Aged
- Mutation
- Phenotype
- RNA Splicing
- White People