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Article

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

European journal of human genetics : EJHG - 1 Jan 2023

Kotambail Ananthapadmanabha, Selvam Pavalan, Muthusamy Karthik, Thomas Maya, Sudhakar Sniya Valsa, Ghati Chetan, Danda Sumita, Arunachal Gautham

Abstract excerpt

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

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Identifiers

PMID: 36202930
DOI: 10.1038/s41431-022-01198-4
PMCID: PMC9823096

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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