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Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversions.

Human mutation - 1 Jan 1999

Karsten S, Voskoboeva E, Krasnopolskaja X, Bondeson M L

Abstract excerpt

We describe a novel type of complex genetic rearrangement in the iduronate-2-sulfatase (IDS) gene of a severely affected MPSII patient. Southern blot analysis indicated an intragenic deletion of exons 5 and 6. The deletion spans 5,581 bp. Sequencing of the deletion junctions revealed a complex rearrangement involving duplications and inversions. A remaining 20 bp fragment (c) from the intron 6 sequence and two...

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Source

Identifiers

PMID: 10571944
DOI: 10.1002/(SICI)1098-1004(199912)14:6<471::AID-HUMU5>3.0.CO;2-5

Genes

IDS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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