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.
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| Title: | 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. |
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| Authors: | Yan, Lulu1 (AUTHOR), Ding, Shuxia2 (AUTHOR), He, Yan2 (AUTHOR), Fu, Bin3 (AUTHOR), Chen, Changshui4 (AUTHOR), Li, Haibo1 (AUTHOR) lihaibo‐775@163.com |
| Source: | Molecular Genetics & Genomic Medicine. Aug2024, Vol. 12 Issue 8, p1-11. 11p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 23249269 |
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| DOI: | 10.1002/mgg3.2507 |
