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Fanconi anemia (FANCC) (hot spot mutation - c.456+4A>T)
FANCC
Fanconi anemia
Centrum Medische Genetica - UZ Antwerpen
Jewish mutation panel (Tay Sachs, Fanconi, Dysautonomia, Canavan) (4 genes; 7 hot spot mutations)
ASPA
,
ELP1
,
HEXA
,
FANCC
Hot spot mutation among Jewish (4 genes, 7 mutations) - UZA
Centrum Medische Genetica - UZ Antwerpen
Hemochromatosis hereditary type 2 to type 5 (5 genes)
HAMP
,
FTH1
,
SLC40A1
,
TFR2
,
HJV
Hemochromatosis hereditary (types 2 to 5) (5 genes) - UCL
HJV or HAMP-related hemochromatosis
,
TFR2-related hemochromatosis
,
Hemochromatosis type 4
,
Hemochromatosis type 5
Centre de Génétique Médicale UCL
Hemochromatosis hereditary type 4 (SLC40A1 gene)
SLC40A1
Hemochromatosis type 4
Centre de Génétique Humaine - CHU Sart-Tilman
Autoimmune lymphoproliferative syndrome
FASLG
Autoimmune lymphoproliferative syndrome
Centrum Menselijke Erfelijkheid - KUL
Hypogonadism. Male Infertility (LHB gene)
LHB
Leydig cell hypoplasia due to LHB deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
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