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Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome
TYMP
,
POLG
,
POLG2
,
RRM2B
MNGIE syndrome (4 genes) - VUB
Mitochondrial neurogastrointestinal encephalomyopathy
Centrum Medische Genetica - UZ Brussel VUB
Hyperekplexia (3 genes)
SLC6A5
,
GLRA1
,
GLRB
Hyperekplexia (3 genes) - ULG
Hereditary hyperekplexia
Centre de Génétique Humaine - CHU Sart-Tilman
MODY : Maturity onset Diabete of the Young (gene panel)
ABCC8
,
GCK
,
HNF1A
,
HNF4A
,
HNF1B
,
INS
,
KCNJ11
MODY - Maturity onset Diabete of the Young (21 genes) - IPG
MODY
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
ABCB1 genotyping (c.3435C>T, c.1199G>A ) - Transport protein - Pharmacogenetics
ABCB1
Resistance to colchicine
Centre de Génétique Médicale UCL
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