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Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6)
MT-ND1
,
MT-ND4
,
MT-ND6
Leber hereditary optic neuropathy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6)
MT-ND1
,
MT-ND4
,
MT-ND6
LHON (3 genes) - VUB
Leber hereditary optic neuropathy
Centrum Medische Genetica - UZ Brussel VUB
Lymphoproliferative syndrome, X-linked (SH2D1A gene) / Duncan's disease
SH2D1A
X-linked lymphoproliferative disease
,
X-linked lymphoproliferative disease due to SH2D1A deficiency
Centrum Menselijke Erfelijkheid - KUL
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
Spondylo-epiphyseal dysplasia
NKX3-2
,
COL2A1
Centrum Medische Genetica - UZ Gent
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