Article

Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism

2019-10-29

Abstract excerpt

<h4>Background</h4> The most common type of metachromatic leukodystrophy (MLD) is an inherited lysosomal disorder caused by recessive mutations in ARSA. The biological process of MLD disease caused by candidate pathogenic mutations in the ARSA gene remains unclear. <h4>Methods</h4> We used whole-exome sequencing (WES) and Sanger sequencing to identify the pathogenic mutation in a Chinese family. Literature revie...

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Literature Corpus work: 4ff99c47-d746-56f9-948c-b0a765e599e7
DOI: 10.1101/822890

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