Mutational analysis

IF Ignacia Fuentes
CG Christina Guttmann-Gruber
BT Birgit Tockner
AD Anja Diem
AK Alfred Klausegger
GC Glenda Cofré-Araneda
OF Olga Figuera
YH Yessia Hidalgo
PM Pilar Morandé
FP Francis Palisson
BR Boris Rebolledo-Jaramillo
MY María Joao Yubero
RC Raymond J Cho
HR Heather I Rishel
MM M Peter Marinkovich
JT Joyce M C Teng
TW Timothy G Webster
MP Marco Prisco
LE Luis H Eraso
JH Josefina Piñon Hofbauer
AS Andrew P South
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DNA samples were sent to the EB Haus Austria for Molecular diagnosis. Library was constructed by using an AmpliSeq EB-specific panel followed by performing NGS analyses on the Ion Torrent Personal Genome Machine platform. Variants were confirmed by Sanger sequencing.

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