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pro vyhledávání: '"Non-classic phenotype Fabry"'
Autor:
Bun Sheng, Ka Fai Yim, Lin Kiu Lau, Han Chih Hencher Lee, Ka Shun Samuel Fung, Ka Fai Johnny Ma, Wai Leung Chak
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100596- (2020)
Fabry disease is an X-linked lysosomal storage disease resulting from a mutation in the GLA gene that encodes α-galactosidase A. The p.N215S (c.644A > G [p.Asn215Ser]) genotype is the most common later-onset variant reported in individuals of Europe
Externí odkaz:
https://doaj.org/article/76cc919d0afc4de8880b4d705b64d093
Autor:
Han Chih Hencher Lee, Lin Kiu Lau, Ka Fai Yim, Bun Sheng, Wai Leung Chak, Ka Shun Samuel Fung, Ka Fai Johnny Ma
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100596-(2020)
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100596-(2020)
Fabry disease is an X-linked lysosomal storage disease resulting from a mutation in the GLA gene that encodes α-galactosidase A. The p.N215S (c.644A > G [p.Asn215Ser]) genotype is the most common later-onset variant reported in individuals of Europe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fe25994f2beab76686c74732be53680
https://doi.org/10.1016/j.ymgmr.2020.100596
https://doi.org/10.1016/j.ymgmr.2020.100596
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