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Bloom syndrome
BLM
Bloom syndrome
Centrum Medische Genetica - UZ Gent
Bloom syndrome
BLM
Bloom syndrome
Centrum Menselijke Erfelijkheid - KUL
Usher syndrome, type IIA
USH2A
Usher syndrome type 2
Centrum Medische Genetica - UZ Gent
Ehlers-Danlos Syndrome, vascular type (type IV)
COL3A1
Vascular Ehlers-Danlos syndrome
Centrum Medische Genetica - UZ Gent
Amyloidosis, cardiac (full screening of the 4 exons for TTR)
TTR
Hereditary ATTR amyloidosis
Centrum Medische Genetica - UZ Antwerpen
TRANSTHYRETIN (TTR) Analysis
TTR
Hereditary ATTR amyloidosis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Amyloidosis (TTR full sanger exon sequencing)
TTR
Hereditary ATTR amyloidosis
,
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
Centre de Génétique Humaine - CHU Sart-Tilman
Amyloidosis hereditary / Dystransthyretinemic hyperthyroxinemia
TTR
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
,
Hereditary ATTR amyloidosis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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