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Cystic fibrosis: frequency of delta F508 and G542X mutations in Córdoba, Argentina
Medicina (B.Aires) ; 56(1): 14-6, ene.-feb. 1996. mapas, tab
Article in English | LILACS | ID: lil-163377
Responsible library: BR1.1
RESUMEN
Using Polymerase Chain Reaction (PCR) based techniques we analyzed the frequency and genotypic distribution of two mutations (deltaF5O8 and G542X) that produce Cystic Fibrosis. The study was carried out in 19 non-related patients (38 chromosomes) born in the Province of Córdoba. The distribution of genotypes showed the presence of 8 homozygote patients deltaF5O8/deltaF5O8, 2 individuals with non-determined mutations (X/X) and 9 compound heterozygotes (deltaF5O8/X). The mutation G542X was not found. The mutation deltaF5O8 was detected in 25 chromosomes resulting in an incidence of 66 por ciento.
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Collection: International databases Database: LILACS Main subject: Cystic Fibrosis / Membrane Proteins / Mutation Limits: Humans Country/Region as subject: South America / Argentina Language: English Journal: Medicina (B.Aires) Journal subject: Medicine Year: 1996 Document type: Article
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Collection: International databases Database: LILACS Main subject: Cystic Fibrosis / Membrane Proteins / Mutation Limits: Humans Country/Region as subject: South America / Argentina Language: English Journal: Medicina (B.Aires) Journal subject: Medicine Year: 1996 Document type: Article
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