Orphanet: Diagn�stico de la eritroqueratodermia variabilis genes GJB3, GJB4

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Diagnosis of erythrokeratodermia variabilis (GJB3, GJB4 genes)

  • Phone : 34 923 294 540 Ext.: 1885
  • Additional Phone : -
  • Fax : 34 923 294 593
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Last update: October 2017

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (2)
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