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

  • Fundacin Pblica Galega de Medicina Xenmica
  • Complejo Hospitalario Universitario de Santiago
  • Travesa de Choupana s/n
  • 15706 SANTIAGO DE COMPOSTELA
  • SPAIN
  • Director of laboratory : Dr Angel CARRACEDO LVAREZ
  • More information
  • Phone : 349 81 95 14 91
  • Additional Phone : -
  • Fax : 349 81 95 14 73
  • Contact
Last update: October 2018

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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