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 than the 0.6% of the general CF population. The average age of diagnosis of this group of Hispanics is 3.1 years, which...
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