Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159‐9T>A, in a Chinese patient with mucopolysaccharidosis type I
Abstract Background Mucopolysaccharidosis type I (MPS‐I) is a rare autosomal recessive genetic lysosomal storage disorder that is caused by pathogenic variants of the α‐L‐iduronidase (IDUA) gene. This study aimed to identify the genetic causes of MPS‐I in a Chinese patient and construct a minigene o...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2024-08-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.2507 |
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