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We have used a high frequency site polymorphism within the human pro-alpha 1(II) collagen gene (COL2A1) in order to examine the segregation of this gene within a large pedigree with type II Ehlers-Danlos syndrome (EDS). The EDS gene and the collagen gene segregate independently within the pedigree and therefore COL2A1 can be excluded as the mutant locus.

Original publication

DOI

10.1136/ard.44.7.431

Type

Journal article

Journal

Annals of the rheumatic diseases

Publication Date

07/1985

Volume

44

Pages

431 - 433

Keywords

Humans, Ehlers-Danlos Syndrome, Chromosome Deletion, Collagen, DNA Restriction Enzymes, Deoxyribonuclease HindIII, DNA, Pedigree, Genotype, Mutation, Genes, Female, Male