Exclusion of the alpha 1(II) collagen structural gene as the mutant locus in type II Ehlers-Danlos syndrome.
Open Access
- 1 July 1985
- journal article
- research article
- Published by Elsevier in Annals of the Rheumatic Diseases
- Vol. 44 (7) , 431-433
- https://doi.org/10.1136/ard.44.7.431
Abstract
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.This publication has 5 references indexed in Scilit:
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