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Diagnosis of pachyonychia congenita (KRT16, KRT17 and KRT6B genes)
Despite our efforts to ensure that data is up to date, this activity has not been validated since 13/02/2020- Service de Génétique Moléculaire
- Hôpital Necker-Enfants Malades
- 149 rue de Sèvres
- 75743 PARIS
- FRANCE
- Director of laboratory : Pr Julie STEFFANN
- More information
- Phone : 33 (0)1 44 49 51 64
- Additional Phone : 33 (0)1 44 38 15 07
- Fax : 33 (0)1 71 19 64 20
- Website
Last update: February 2020
Responsible of diagnostic test
Purpose(s)
Antenatal diagnosis
Pre-implantation diagnosis
Technical procedure(s)
Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
List of diseases and genes
List of diseases tested
(1)
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