A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity
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DOI: 10.1007/s12031-019-01398-6
Abstract: Schindler disease is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in alpha-N-acetylgalactosaminidase (α-NAGA) activity due to defects in the NAGA gene. Accumulation of the enzyme’s substrates results in clinically heterogeneous symptoms… read more here.
Keywords: extreme intrafamilial; naga gene; disease; missense variant ... See more keywords