Mild cystic fibrosis disease in three Mexican delta-F508/G551S compound heterozygous siblings.

doi:10.1111/j.1399-0004.1995.tb03931.x

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Article

Mild cystic fibrosis disease in three Mexican delta-F508/G551S compound heterozygous siblings.

Clinical genetics - 1 Feb 1995

Orozco L, Lezana J L, Villarreal M T, Chávez M, Carnevale A

Abstract excerpt

We describe three delta-F508/G551S compound heterozygous siblings with a mild CF phenotype, characterized by mild chronic pulmonary disease, pancreatic sufficiency and increased sweat chloride levels. PCR-mediated site-directed mutagenesis detected the delta-F508 mutation on one allele, and the G...

Topics

Adult
Base Sequence
Cystic Fibrosis
Exons
Female
Heterozygote
Humans
Male
Molecular Sequence Data
Mutation
Nuclear Family
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic

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