Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup

BACKGROUND: Fabry disease (α-galactosidase deficiency) is an X-linked genetic disease caused by a variety of pathogenic GLA variants. The phenotypic heterogeneity is considerable, with two major forms, classic and later-onset disease, but adjudication of clinical phenotype is currently lacking for m...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Germain, Dominique P, Oliveira, João Paulo, Bichet, Daniel G, Yoo, Han-Wook, Hopkin, Robert J, Lemay, Roberta, Politei, Juan, Wanner, Christoph, Wilcox, William R, Warnock, David G
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2020
Assuntos:
Genotype-Phenotype Correlations
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7418626/
https://ncbi.nlm.nih.gov/pubmed/32161151
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106467
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