Article

Identification and the origin of GAA expansion in FGF14 (Spinocerebellar Ataxia Type 27B): an insight from Indian subcontinent suggests an ancient origin

2024-03-14

Abstract excerpt

<h4>Background: </h4> The ethnic diversity of India provides a unique opportunity to study the history of the origin of mutations of genetic disorders. Spinocerebellar ataxia type 27B (SCA27B), a recently identified dominantly inherited cerebellar disorder is caused by GAA-repeat expansions in intron 1 of Fibroblast Growth Factor 14 ( FGF14 ). Being predominantly reported in European population, we aimed to screen...

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Literature Corpus work: 53e69e82-4d3a-5dce-baa7-9aeed7046452
DOI: 10.21203/rs.3.rs-4024318/v1

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