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A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis

✍ Scribed by Masahide Yazaki; Kunihiro Yoshida; Akinori Nakamura; Kenichi Furihata; Masaru Yonekawa; Tomohiro Okabe; Naohito Yamashita; Michiya Ohta; Shu-ichi Ikeda


Book ID
119469916
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
271 KB
Volume
156
Category
Article
ISSN
0022-510X

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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