ABCC8 p.Gly328Arg
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PMID: 15223052
[PubMed]
Bernier V et al: "Pharmacological chaperones: potential treatment for conformational diseases."
No.
Sentence
Comment
86
Using a different inhibitor, Frustaci et al. showed that treatment of a patient harboring another ER-retained form of a-Gal A (G328R) with galactose for three days significantly increased a-Gal A activity detected in lymphocytes isolated from coronary-sinus blood [30].
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ABCC8 p.Gly328Arg 15223052:86:127
status: NEW