A novel cystic fibrosis mutation: deletion of seventeen nucleotides at the exon 10-intron 10 boundary of the CFTR gene, in a Sardinian patient.
Leoni
G B
GB
Centro Regionale per le Microcitemie, USL 21, Cagliari, Italy.
Rosatelli
M C
MC
Cossu
G
G
Pischedda
M C
MC
De Virgiliis
S
S
Cao
A
A
D000293:Adolescent; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005091:Exons; D005260:Female; D006801:Humans; D007438:Introns; D007558:Italy; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009692:Nucleic Acid Heteroduplexes / Q000235:genetics / Q000302:isolation & purification; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D017384:Sequence Deletion
C505032:CFTR protein, human; D008565:Membrane Proteins; D009692:Nucleic Acid Heteroduplexes; D009838:Oligodeoxyribonucleotides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA