Article
Early onset leprosy reveals a joint effect of <i>LRRK2</i> and <i>NOD2</i> variants
2021-03-26
Abstract excerpt
Leprosy, caused by Mycobacterium leprae , has a long incubation period and cases with age-of-onset <5 years are rare. Here, we studied a three-generational multiplex leprosy family which included monozygotic twins age <24 months suffering from paucibacillary leprosy. Whole genome sequencing identified a homozygous double mutation in the LRRK2 gene (N551K, R1398H) and a heterozygous mutation in NOD2 (R702W) as cand...
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Identifiers and source
- Literature Corpus work
- d2efce4c-c73a-592e-91f6-87655a726c9b
- DOI
- 10.1101/2021.03.25.21253623
