Familial hypertrophic obstructive cardiomyopathy with the GLA E66Q mutation and zebra body

BACKGROUND: Fabry disease is caused by mutations in the α-galactosidase A (GLA) gene, which is located in X-chromosome coding for the lysosomal enzyme of GLA. Among many gene mutations, E66Q mutation is under discussion for its pathogenicity because there is no clinical report showing pathological e...

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Detalhes bibliográficos
Publicado no:BMC Cardiovasc Disord
Main Authors: Oikawa, Masayoshi, Sakamoto, Nobuo, Kobayashi, Atsushi, Suzuki, Satoshi, Yoshihisa, Akiomi, Yamaki, Takayoshi, Nakazato, Kazuhiko, Suzuki, Hitoshi, Saitoh, Shu-ichi, Kiko, Yuichirou, Nakano, Hajime, Hayashi, Takeharu, Kimura, Akinori, Takeishi, Yasuchika
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4862085/
https://ncbi.nlm.nih.gov/pubmed/27160240
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12872-016-0262-y
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