title: Genotype-phenotype correlation in three homozygotes for the cystic fibrosis mutation 2183AA-->G shows a severe phenotype.
authors.forename: M O
authors.initials: MO
authors.lastname: Kilinç
authors.forename: V N
authors.initials: VN
authors.lastname: Ninis
authors.forename: A
authors.initials: A
authors.lastname: Tolun
authors.forename: X
authors.initials: X
authors.lastname: Estivill
authors.forename: T
authors.initials: T
authors.lastname: Casals
authors.forename: A
authors.initials: A
authors.lastname: Savov
authors.forename: E
authors.initials: E
authors.lastname: Dagli
authors.forename: F
authors.initials: F
authors.lastname: Karakoç
authors.forename: M
authors.initials: M
authors.lastname: Demirkol
authors.forename: G
authors.initials: G
authors.lastname: Hüner
authors.forename: F
authors.initials: F
authors.lastname: Ozkinay
authors.forename: E
authors.initials: E
authors.lastname: Demir
authors.forename: J L
authors.initials: JL
authors.lastname: Seculi
authors.forename: J
authors.initials: J
authors.lastname: Pena
authors.forename: C
authors.initials: C
authors.lastname: Bousono
authors.forename: J
authors.initials: J
authors.lastname: Ferrer-Calvete
authors.forename: C
authors.initials: C
authors.lastname: Calvo
authors.forename: G
authors.initials: G
authors.lastname: Glover
authors.forename: I
authors.initials: I
authors.lastname: Kremenski
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D017354:Point Mutation
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator