Publications
| Title | Abstract | Year(sorted ascending) Filter | PMID Filter |
|---|
| high allelic heterogeneity between afro-brazilians and euro-brazilians impacts cystic fibrosis genetic testing. | cystic fibrosis (cf) is an autosomal recessive disease caused by at least 1,000 different mutations in the cystic fibrosis transmembrane conductance regulator gene (cftr). to determine the frequency of 70 common worldwide cftr mutations in 155 euro-brazilian cf patients and in 38 afro-brazilian cf patients, we used direct pcr amplification of dna from a total of 386 chromosomes from cf patients born in three different states of brazil. the results show that screening for seventy mutations accoun ... | 2003 | 14641997 |