Orphanet: Diagnosi molecolare dei difetti della ATP sintasi geni MT ATP6, MT ATP8, ATPAF2, TMEM70
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Molecular diagnosis of ATP synthase deficiency (MT-ATP6, MT-ATP8, ATPAF2, TMEM70 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 05/03/2012
  • U.O. di Neurogenetica Molecolare
  • Dipartimento di Diagnostica e Tecnologia Applicata
  • Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
  • Via Libero Temolo 4
  • 20126 MILANO
  • ITALY
  • Director of laboratory : Dr Barbara GARAVAGLIA
  • More information
  • Phone : 39 02 23942604
  • Additional Phone : 39 02 23942618
  • Fax : 39 02 23942619
  • Website
  • Contact
Last update: March 2012

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
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List of diseases and genes

List of genes tested (including panels) (4)
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