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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
Carnitine Palmitoyltransferase type II
CPT2
Carnitine palmitoyl transferase II deficiency, myopathic form
,
Carnitine palmitoyl transferase II deficiency, severe infantile form
,
Carnitine palmitoyl transferase II deficiency, neonatal form
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Carnitine Palmitoyl transferase type II
CPT2
Carnitine palmitoyl transferase II deficiency, severe infantile form
,
Carnitine palmitoyl transferase II deficiency, neonatal form
,
Carnitine palmitoyl transferase II deficiency, myopathic form
Centrum Medische Genetica - UZ Antwerpen
Immunodeficiency - Activated PI3K-delta syndrome
PIK3CD
Activated PI3K-delta syndrome
Centrum Menselijke Erfelijkheid - KUL
Spinocerebellar ataxia (type 13)
KCNC3
Spinocerebellar ataxia type 13
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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