Orphanet: Diagn�stico molecular da doen�a de Charcot Marie Tooth, tipo 2: CMT2A2, CMT2B1, CMT2B2, CMT2D, CMT2E, CMT2F, CMT2I2J, CMT2K, CMT2L, CMT2N genes MFN2, RAB7A, LMNA, MED25, GARS, NEFL, HSPB1, MPZ, GDAP1, HSPB8, AARS
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Molecular diagnosis of Charcot-Marie-Tooth disease, type 2: CMT2A2, CMT2B1, CMT2B2, CMT2D, CMT2E, CMT2F, CMT2I/2J, CMT2K, CMT2L, CMT2N (MFN2, RAB7A, LMNA, MED25, GARS, NEFL, HSPB1, MPZ, GDAP1, HSPB8, AARS genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 10/01/2013
  • Centro de Gentica Preditiva e Preventiva
  • Instituto de Biologia Molecular e Celular
  • Rua do Campo Alegre, 823
  • 4150-180 PORTO
  • PORTUGAL
  • Director of laboratory : Pr Jorge SEQUEIROS
  • More information
  • Phone : 351 226 074 942
  • Additional Phone : -
  • Fax : 351 226 002 923
  • Website
  • Contact
Last update: January 2013

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
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