Identification of a new cystic fibrosis transmembrane regulator mutation in a severely affected patient

European Respiratory Journal

Volumn 19, Issue 2, 2002, Pages 374-376

  Spitzer, E ^a   Staab, D ^a   Hanke, R ^a   Wahn, U ^a   Grosse, R ^a  

^a Inst of Med Molecular Diagnostics   (Germany)

Author keywords

Cystic fibrosis; Cystic fibrosis transmembrane regulator gene mutation; Oligo ligation assay

Indexed keywords

ANTIBIOTIC AGENT; DNA; GLUTAMIC ACID; PRIMER DNA;

ALLELE; ARTICLE; CASE REPORT; CHILD; CYSTIC FIBROSIS; GASTROINTESTINAL TRACT; GENE MUTATION; GENE PROBE; GENE SEQUENCE; GENE TARGETING; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; LUNG FIBROSIS; OLIGONUCLEOTIDE PROBE; PARENT; PNEUMONIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REGULATOR GENE; SEQUENCE ANALYSIS;

EID: 0036178715     PISSN: 09031936     EISSN: None     Source Type: Journal    
DOI: 10.1183/09031936.02.00962002a     Document Type: Article

References (8)

1. Cystic fibrosis: A multiple exocrinopathy caused by dysfunctions in a multifunctional transport protein
2. High density multiplex detection of nucleic acid sequences: Oligonucleotide ligation assay and sequence-coded separation
3. Detection of BRCA1 and BRCA2 mutations in breast cancer families by a comprehensive two stage screening procedure
4. Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients
5. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations
6. Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene