Article
Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Genomics - 1 May 1991
Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan J R, Rommens J, Tsui L C
Abstract excerpt
The gene responsible for cystic fibrosis, the most common severe autosomal recessive disorder, is located on the long arm of human chromosome 7, region q31-q32. The gene has recently been identified and shown to be approximately 250 kb in size. To understand the structure and to provide the basis for a systematic analysis of the disease-causing mutations in the gene, genomic DNA clones spanning different regions...
Topics
- Amino Acid Sequence
- Base Sequence
- Chromosomes, Human, Pair 7
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- Exons
- Genetic Variation
- Humans
- Introns
- Membrane Proteins