Encontrado 1 documento, a visualizar página 1 de 1

Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Pho...

Mucolipidosis type II α/β is a severe, autosomal recessive lysosomal storage disorder, caused by a defect in the GNPTAB gene that codes for the α/β subunits of the GlcNAc-phosphotransferase. To date, over 100 different mutations have been identified in MLII α/β patients, but no large deletions have been reported. Here we present the first case of a large homozygous intragenic GNPTAB gene deletion (c.3435-386_36...