Article

Non-allelic homologous recombination leading to premature transcription termination in the ARSB gene as a novel cause of Mucopolysaccharidosis type VI

2022-06-28

Abstract excerpt

Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disorder associated with pathogenic variants in the ARSB gene. Herein, we present a novel type of ARSB mutations, which is an insertion of the LHFPL2 gene fragment derived from unequal non-allelic homologous recombination between these two genes. The 52 kb insertion, containing the LHPL2 exon 3, was identified in reverse complement orientation deep...

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Literature Corpus work: 40507021-9096-58df-a5e5-0d42c8531eaa
DOI: 10.22541/au.165639968.80514021/v1

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