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MTHFR c.677C>T et c.1298A>C -drug metabolism - Pharmacogenetics
MTHFR
Centre de Génétique Médicale UCL
Homocystinuria (hot spot mutation - c.677C>T)
MTHFR
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Homocystinuria (hot spot mutation - c.1298A>C)
MTHFR
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Emberger syndrome / Immunodeficiency 21
GATA2
Deafness-lymphedema-leukemia syndrome
,
Monocytopenia with susceptibility to infections
Centrum Menselijke Erfelijkheid - KUL
Obesity (gene panel)
ADCY3
,
BDNF
,
LEP
,
LEPR
,
MC3R
,
MC4R
,
NR0B2
,
NTRK2
,
PCSK1
,
POMC
,
SIM1
,
UCP3
Obesitas (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Obesitas, early onset (gene panel)
MC4R
,
MC3R
,
LEP
,
LEPR
,
PCSK1
,
POMC
,
SIM1
,
NTRK2
Obesitas, early onset (8 genes) - VUB
Centrum Medische Genetica - UZ Brussel VUB
MUC1-VNTR insertion
MUC1
MUC1-related autosomal dominant tubulointerstitial kidney disease
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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