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WebAlpha-galactosidase A, the enzyme deficient in Fabry disease, is a polypeptide of 429 amino acids encoded by the seven exons of the GLA gene. From the literature, a total of 599 GLA sequence changes, including 435 pathogenic point mutations (missense, nonsense, and splice site) and 150 disease causing ‘short length’ rearrangements (mainly deletions and … WebCher réseau, j'ai le plaisir de vous annoncer la sortie du premier roman de mon épouse : "Marques de fabrique", de Cécile BAUDIN. C'est un thriller historique… twin city oral \u0026 maxillofacial surgery

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