Identification of a new splicing mutation (406-1 G-C) in the CFTR gene.
Bonizzato
A
A
Servizio di Genetica Medica, I.R.C.C.S., Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Nicolis
E
E
Gasparini
P
P
D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012326:RNA Splicing / Q000235:genetics
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA