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Molecular diagnosis of congenital fiber-type disproportion myopathy (SEPN1 gene): analysis of the entire coding region

Despite our efforts to ensure that data is up to date, this activity has not been validated since 02/05/2011
  • Unidade de Gentica Molecular - Departamento de Gentica
  • Centro de Gentica Mdica Jacinto Magalhes - Centro Hospitalar do Porto
  • CGMJM - Centro de Gentica Mdica Jacinto Magalhes
  • Praa Pedro Nunes 88
  • 4099 PORTO 028
  • Director of laboratory : Dr Rosrio SANTOS
  • More information
  • Phone : 351 226 070 330
  • Additional Phone : -
  • Fax : 351 226 070 399
  • Website
  • Contact
Last update: May 2011

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (1)
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