Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene |
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| Authors: | Stephen Bamforth Anne-Lise Brresen Peter S Harper Kre Berg |
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| Institution: | Stephen Bamforth,Anne-Lise Børresen,Peter S. Harper,Kåre Berg |
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| 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 proa2(I) collagen chain, segregated independently of the phenotype and it is therefore excluded as the mutant locus in this family. |
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| Keywords: | COL1A2 genetic linkage Marfan syndrome restriction fragment length polymorphism |
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