Article
Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome.
European journal of human genetics : EJHG - 1 Jan 1995
Bondeson M L, Malmgren H, Dahl N, Carlberg B M, Pettersson U
Abstract excerpt
A deficiency of the enzyme iduronate-2-sulfatase (IDS) is the cause of Hunter syndrome (mucopolysaccharidosis type II). Here, we report a study of the human IDS locus at Xq28. An unexpected finding was an IDS-related region (IDS2) which is located on the telomeric side of the IDS gene within 80 kb. We have identified sequences in this locus that are homologous to exons 2 and 3 as well as sequences homologous to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
