Article
Human DCTN1: genomic structure and evaluation as a candidate for Alström syndrome.
Genomics - 1 Nov 1998
Collin G B, Nishina P M, Marshall J D, Naggert J K
Abstract excerpt
The human dynactin 1 gene (DCTN1) is positioned on chromosome 2p13, the candidate region for various diseases including Alström syndrome, limb-girdle muscle dystrophy, and Miyoshi myopathy. Here, we report the exon-intron structure of DCTN1 along with characterization of the 5' upstream sequence...
Topics
- Alternative Splicing
- Amino Acid Sequence
- Base Sequence
- Child
- Chromosomes, Human, Pair 2
- DNA Mutational Analysis
- DNA Primers
- Dynactin Complex
- Exons
- Female
- Genetic Variation
- Hearing Loss, Sensorineural
- Humans
- Introns
- Male
- Microtubule-Associated Proteins
- Molecular Sequence Data
- Obesity