Effects of a chemical chaperone on genetic mutations in α-galactosidase A in Korean patients with Fabry disease

Fabry disease is an X-linked inborn error of glycosphingolipid catabolism that results from mutations in the gene encoding the α-galactosidase A (GLA) enzyme. We have identified 15 distinct mutations in the GLA gene in 13 unrelated patients with classic Fabry disease and 2 unrelated patients with at...

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Detaylı Bibliyografya
Asıl Yazarlar: Park, Jung-Young, Kim, Gu-Hwan, Kim, Sung-Su, Ko, Jung Min, Lee, Jin-Joo, Yoo, Han-Wook
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Korean Society of Medical Biochemistry and Molecular Biology 2009
Konular:
Original Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2679280/
https://ncbi.nlm.nih.gov/pubmed/19287194
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3858/emm.2009.41.1.001
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