Orphanet: Molekulare Diagnostik der Erythrokeratodermie GJB4 und LOR Gen

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Molecular diagnosis of Erythrokeratoderma (GJB4 and LOR genes)

  • Phone : +43 (0)1 40160 56531
  • Additional Phone : +43 (0)1 40160 956531
  • Fax : -
  • Website
Last update: December 2017

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of genes tested (including panels) (2)
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