MARFAN-SYNDROME - EXCLUSION OF GENETIC-LINKAGE TO THE COL1A2 GENE
- 1 November 1986
- journal article
- research article
- Vol. 30 (5) , 428-432
Abstract
Marfan Syndrome is a genetic disorder of the connective tissue. Individuals from one large family with this disorder were genotyped for COL1A2 gene associated RFLPs. Our results demonstrated that the COL1A2 gene, encoding the pro.alpha.2(I) collagen chain, segregated independently of the phenotype and it is therefore excluded as the mutant locus in this family.This publication has 2 references indexed in Scilit:
- Marfan syndrome: abnormal alpha 2 chain in type I collagen.Proceedings of the National Academy of Sciences, 1981
- CONSTRUCTION OF A GENETIC-LINKAGE MAP IN MAN USING RESTRICTION FRAGMENT LENGTH POLYMORPHISMS1980