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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...

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Principais autores: Christopher Connolly, Rachel Fisher, Chen Yang, Susan Schelley, Bryce A. Mendelsohn, Chung Lee, Ayesha Ahmad
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2025-10-01
coleção:International Journal of Neonatal Screening
Assuntos:
newborn screening
lysosomal storage disorders
pseudodeficiency alleles
mucopolysaccharidosis
type I
MPS I
Acesso em linha:https://www.mdpi.com/2409-515X/11/4/100
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