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Publikováno v:
Voprosy meditsinskoi khimii, 45(4), 346-349
The mutation analysis of alpha-galactosidase A gene was carried out in two families with Fabry disease described by us earlier. In the family P. a new point mutation E341K (a G to A transition at position 10999 of the gene) was identified. The mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::4020554cd30f1ea60119832d8ad0b62d
https://research.rug.nl/en/publications/040d9d82-bdd9-493b-bb6a-e4c2a48e5a78
https://research.rug.nl/en/publications/040d9d82-bdd9-493b-bb6a-e4c2a48e5a78
