Article
Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution.
Human biology - 1 Aug 1997
Raskin S, Phillips J A, Krishnamani M R, Vnencak-Jones C, Parker R A, Rozov T, Cardieri J M, Marostica P, Abreu F, Giugliani R, Reis F, Rosario N A, Ludwig N, Culpi L
Abstract excerpt
We have used PCR amplification of DNA obtained from Guthrie cards to identify the DF508 mutation and correlate it with the allele frequencies at two polymorphic loci (XV-2C and KM-19) closely linked to the cystic fibrosis gene. The DNA came from 193 white Brazilian families affected by cystic fibrosis and living in five different states of Brazil. The distribution of the haplotypes derived from the DF508 and...
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