Is the short insulin tolerance test safe and reproducible?

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Title:	Is the short insulin tolerance test safe and reproducible?
Authors:	Chen, CC;Wang, TY;Hsu, SY;Chen, RH;Chang, CT;Chen, SJ
Contributors:	附設醫院內科部新陳代謝科;China Med Coll Hosp, Div Endocrinol & Metab, Dept Internal Med, Taichung, Taiwan
Date:	1998
Issue Date:	2010-09-24 14:21:29 (UTC+8)
Publisher:	JOHN WILEY & SONS LTD
Abstract:	Wilson disease is an autosomal recessive disorder of copper metabolism. Mutation screening in Wilson disease has led to the detection of at least sg disease specific mutations. Some mutations appear to be population specific, while others are common to many populations. In this study, 38 Taiwanese patients with Wilson disease were screened using single-strand conformation polymorphism analysis, followed by direct DNA sequencing. We found 12 different mutations, six of which were novel. All our detected mutations were found to be in eight exons. Four mutations in three loci (Arg778Gln, Arg778Leu, Gly943Asp, and Pro992Leu) accounted for about 58% of the mutant alleles we detected. Using an RNA transcriptional assay, we confirmed that both of our detected splice site mutations resulted in exon skipping. Hum Mutat 12:370-376, 1998. (C) 1998 Wiley-Liss, Inc.
Relation:	DIABETIC MEDICINE 15(11):924-927
Appears in Collections:	[China Medical University Hospital] Jurnal articles

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