Article
Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis.
Human molecular genetics - 1 Sept 1994
Zhou J, Spier S J, Beech J, Hoffman E P
Abstract excerpt
It is often suggested that polygenic or environmental factors are responsible for clinical variability between patients with identical mutations. However, most dominant diseases are caused by a change-of-function alteration in the mutant allele's protein product. All patients are heterozygous and...
Topics
- Animals
- Base Sequence
- DNA
- Genes, Dominant
- Heterozygote
- Homozygote
- Horse Diseases
- Horses
- Molecular Sequence Data
- Mutation
- Paralyses, Familial Periodic
- Phenotype
- Polymerase Chain Reaction
- RNA, Messenger
- Sodium Channels