Article

<i>FGF14</i>repeat length and mosaic interruptions: modifiers of SCA27B?

2024-11-22

Abstract excerpt

Deep intronic FGF14 repeat expansions have been identified as a frequent genetic cause of late-onset cerebellar ataxias, explaining up to 30% of patients. Interruptions between repeats have previously been identified to impact the penetrance in other repeat expansion disorders. Repeat interruptions within FGF14 have yet to be characterized in detail. We utilized long-range PCR, Sanger sequencing, repeat-primed PCR...

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Literature Corpus work: d4591a40-8eb5-57ea-91f3-380a29ff637b
DOI: 10.1101/2024.11.21.24317532

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