Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing
Mucopolysaccharidosis type II is an X-linked lysosomal storage disorder caused by mutations in the IDS gene that encodes the iduronate-2-sulfatase enzyme. The IDS gene is located on the long arm of the X-chromosome, comprising 9 exons, spanning approximately 24 kb. The analysis of carriers, in addit...
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| Auteurs principaux: | , , , , , |
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| Format: | article |
| Langue: | EN |
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Frontiers Media S.A.
2021
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| Accès en ligne: | https://doaj.org/article/3b22f180790947778d87aeca9c971d99 |
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