Orphanet: Diagn�stico de la ataxia espinocerebelosa autos�mica dominante genes ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, CACNA1A, PPP2R2B, TBP
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Diagnosis of autosomal dominant cerebellar ataxia (ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, CACNA1A, PPP2R2B, TBP genes)

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Last update: September 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
PCR based techniques
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