Article
Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family.
Clinical genetics - 1 Jan 1994
Raybould M C, Birley A J, Moss C, Hultén M, McKeown C M
Abstract excerpt
An intragenic elastin Hinf I polymorphism has been used to study the inheritance of elastin alleles in a family considered to show recessive inheritance of pseudoxanthoma elasticum (PXE). The marker has proved informative, excluding the elastin gene as a cause of PXE in this family. In addition, whole genomic human elastin clones were used in Southern analysis to screen the family for gross elastin gene...
Topics
- Adolescent
- Alleles
- Elastin
- Family
- Female
- Genetic Markers
- Humans
- Mutation
- Pedigree
- Polymorphism, Genetic
- Pseudoxanthoma Elasticum