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Alpha-1-antitrypsin deficiency (2 hot sopt mutations / p.Glu366Lys; p.Glu288Val )
SERPINA1
Alpha-1-antitrypsin deficiency
Centrum Menselijke Erfelijkheid - KUL
Alpha-1-antitrypsin deficiency (hot spot mutations - p.Glu342Lys (allele PI-Z), p. Glu264Val (allele PI-S))
SERPINA1
Alpha-1-antitrypsin deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Coagulopathies (2 genes)
ITGA2B
,
ITGB3
Autosomal dominant macrothrombocytopenia
,
Glanzmann thrombasthenia
,
Fetal and neonatal alloimmune thrombocytopenia
Centre de Génétique Médicale UCL
Gilbert syndrome (homozygous A(TA)7TAA allele)
UGT1A1
Gilbert syndrome (NON RARE IN EUROPE)
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Gilbert syndrome / Irinotecan sensitivity (homozygous A(TA)7TAA allele) - Pharmacogenetics
UGT1A1
Gilbert syndrome (NON RARE IN EUROPE)
,
Irinotecan toxicity
Centre de Génétique Humaine - Erasme ULB
Gilbert disease / Irinotecan sensitivity / Raltegravir toxicity - Pharmacogenetics
UGT1A1
Gilbert syndrome (NON RARE IN EUROPE)
,
Irinotecan toxicity
Centre de Génétique Humaine - CHU Sart-Tilman
Gilbert syndrome / Irinotecan sensitivity (homozygous A(TA)7TAA allele)
UGT1A1
Gilbert syndrome (NON RARE IN EUROPE)
,
Irinotecan toxicity
,
Transient familial neonatal hyperbilirubinemia
Centrum Menselijke Erfelijkheid - KUL
FRMD7-related infantile nystagmus / Nystagmus, infantile periodic alternating, X-linked
FRMD7
Nystagmus, infantile periodic alternating, X-linked
Centrum Medische Genetica - UZ Gent
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