A Biochemical Platform to Define the Relative Specific Activity of <i>IDUA</i> Variants Identified by Newborn Screening
The lysosomal storage disorder, mucopolysaccharidosis I (MPSI), results from mutations in <i>IDUA</i>, the gene that encodes the glycosaminoglycan-degrading enzyme α-L-iduronidase. Newborn screening efforts for MPSI have greatly increased the number of novel <i>IDUA</i> varia...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Book |
| Published: |
MDPI AG,
2020-11-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
|---|---|
| Copy 1 | Available |