The 26 families, their 115 Fabry disease patients and their corresponding GLA-gene variants of the Danish Fabry disease register.
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Type of the GLA gene pathogenic variants, protein nomenclature, colloquial nomenclature, coding sequence (according to http://varnomen.hgvs.org), site of mutation and genotype classification (according to International Fabry Disease Genotype-Phenotype Database (dbFGP) http://dbfgp.org/dbFgp/fabry/ and the http://fabry-database.org) are presented. Sex, age (in years) and the primary clinical manifestation at Fabry disease diagnosis of the index-cases are presented.
创建时间：
2022-11-16
