Reclassifying <i>IDUA</i> c.250G>A (p.Gly84Ser): Evidence for a Possible Pseudodeficiency Allele
Accurate variant classification is crucial for newborn screening (NBS) to prevent missed diagnoses or unnecessary interventions. The <i>IDUA</i> gene variant denoted as c.250G>A (p.Gly84Ser) has been identified in individuals with positive NBS for Mucopolysaccharidosis Type I (MPS I). This variant h...
I tiakina i:
| Ngā kaituhi matua: | , , , , , , |
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| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
MDPI AG
2025-10-01
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| Rangatū: | International Journal of Neonatal Screening |
| Ngā marau: | |
| Urunga tuihono: | https://www.mdpi.com/2409-515X/11/4/100 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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