QR Code

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...

Description complète

Enregistré dans:
Auteurs principaux: Christopher Connolly, Rachel Fisher, Chen Yang, Susan Schelley, Bryce A. Mendelsohn, Chung Lee, Ayesha Ahmad
Format: Artigo
Langue:Inglês
Publié: MDPI AG 2025-10-01
Collection:International Journal of Neonatal Screening
Sujets:
newborn screening
lysosomal storage disorders
pseudodeficiency alleles
mucopolysaccharidosis
type I
MPS I
Accès en ligne:https://www.mdpi.com/2409-515X/11/4/100
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires