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Thiopurine S-Methyltransferase deficiency - TPMT genotyping of 3 polymorphisms - Pharmacogenetics
TPMT
Azathioprine or 6-mercatopurine toxicity or dose selection
Centrum Menselijke Erfelijkheid - KUL
Alpha-1-antitrypsin deficiency (2 hot sopt mutations / p.Glu366Lys; p.Glu288Val )
SERPINA1
Alpha-1-antitrypsin deficiency
Centrum Menselijke Erfelijkheid - KUL
Alzheimer Disease, late onset (AD2) / ApoE2, E3, and E4 isoforms
APOE
Alzheimer disease (NON RARE IN EUROPE)
Centrum Menselijke Erfelijkheid - KUL
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centrum Menselijke Erfelijkheid - KUL
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