Length polymorphism in the pro ?2(I) collagen gene: an alternative explanation in a case of Marfan syndrome
- 1 May 1986
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 73 (1), 91-92
- https://doi.org/10.1007/bf00292673
Abstract
A 38 base pair (bp) insertion in the pro α2(I) collagen gene (COL1A2) of a patient with Marfan syndrome has been proposed to be the possible cause of the disease (Henke et al. 1985). However, analysis of this insertion in DNA from the patient in question and from random normal individuals reveals it to be a common polymorphism. We suggest that the 38 bp insertion is not related to the primary defect in this case of Marfan syndrome.This publication has 18 references indexed in Scilit:
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