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A Nonsense Mutation of the Ceruloplasmin Gene in Hereditary Ceruloplasmin Deficiency with Diabetes Mellitus

✍ Scribed by M. Daimon; T. Kato; T. Kawanami; M. Tominaga; M. Igarashi; K. Yamatani; H. Sasaki


Book ID
115577666
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
493 KB
Volume
217
Category
Article
ISSN
0006-291X

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Novel mutation in the ceruloplasmin gene
✍ Hui-Fang Shang; Xiao-Feng Jiang; Jean-Marc Burgunder; Qin Chen; Dong Zhou πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 118 KB

## Abstract In a Chinese woman who had diabetes mellitus, undetectable ceruloplasmin, hand tremor, neck dystonia, and cognitive disturbances, genetic analyses revealed a novel homozygous mutation (848G>C or W283S) in exon 5 in the ceruloplasmin gene. Another member with a milder phenotype was also