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:	MDPI AG 2025-10-01
Series:	International Journal of Neonatal Screening
Assuntos:	newborn screening lysosomal storage disorders pseudodeficiency alleles mucopolysaccharidosis type I MPS I
Acceso en liña:	https://www.mdpi.com/2409-515X/11/4/100
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