Instability of repeats of the von Willebrand factor gene variable number tandem repeat sequence in intron 40.
作者信息
Eikenboom J C, Reitsma P H, van der Velden P A, Briët E
机构信息
Department of Haematology, University Hospital Leiden, The Netherlands.
出版信息
Br J Haematol. 1993 Jul;84(3):533-5. doi: 10.1111/j.1365-2141.1993.tb03114.x.
Abstract
The von Willebrand factor gene contains a highly polymorphic variable number tandem repeat sequence (VNTR) in intron 40. We observed the spontaneous mutation to a new length allele. Sequence analysis revealed that the change in length corresponds to one tetranucleotide repeat unit. This observation emphasizes the risk of errors in family studies and prenatal diagnosis due to VNTR instability.
摘要
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