title: Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family.
abstract: 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 rearrangements, but none were detected.
authors.affiliation: Regional Genetic Laboratory and Consultancy Services, East Birmingham NHS Hospital Trust, UK.
authors.forename: M C
authors.initials: MC
authors.lastname: Raybould
authors.forename: A J
authors.initials: AJ
authors.lastname: Birley
authors.forename: C
authors.initials: C
authors.lastname: Moss
authors.forename: M
authors.initials: M
authors.lastname: Hultén
authors.forename: C M
authors.initials: CM
authors.lastname: McKeown
mesh_terms: D000293:Adolescent; D000483:Alleles; D004549:Elastin / Q000235:genetics*; D005190:Family; D005260:Female; D005819:Genetic Markers; D006801:Humans; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic; D011561:Pseudoxanthoma Elasticum / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D004549:Elastin