Análisis mutacional de GNPTAB para el diagnóstico molecular de mucolipidosis tipo II (I-cell disease). Descripción de dos nuevas mutaciones sin sentido asociadas con la enfermedad
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry
Reference14 articles.
1. Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) are caused by Mutations in the GlcNAc-Phosphotransferase a/b-Subunits Precursor Gene;Kudo;Am J Hum Genet.,2006
2. When Mucolipidosis III meets Mucolipidosis II: GNPTAB gene mutations in 24 patients;Bargal;I Mol Gen Metabol.,2006
3. Identification of Mutations in the GNPTA (MGC4170) Gene Coding for GlcNAc-Phosphotransferase α/β Subunits in Korean Patients with Mucolipidosis Type II or Type III A;Paik;Hum Mut.,2005
4. Bovine UDP-N-acetylglucosamine: lysosomal-enzyme N-acetyl-glucosamine-1-phosphotransferase. II. Enzymatic characterization and identification of the catalitic subunit;Bao;J Biol Chem.,1996
5. I-cell disease presenting with severe hypophosphatemia and cardiomyopathy;Bocca;Neuropediatrics.,2000
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