Article

Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: Genomic signatures of a founder event

2022-07-15

Abstract excerpt

Mild/juvenile Canavan disease (M/JCD) is less frequently reported in literature and little is known about its pathogenetic mechanisms. We report a comprehensive investigation into the pathogenetic mechanism of a novel ASPA (NM_000049.4):c.526G > A(p.Gly176Ser) variant in two families. The families belong to Telugu Devanga Chettiar community (TDC) from southern India. TDC has a complex history of migration from the...

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Literature Corpus work: 79c76ff8-fa2e-5969-86fa-ed85a6b3462a
DOI: 10.21203/rs.3.rs-1756437/v1

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