A Novel Mutation of the Ceruloplasmin Gene in a Patient with Heteroallelic Ceruloplasmin Gene Mutation (HypoCPGM)-Reference-Cited by-同舟云学术

A Novel Mutation of the Ceruloplasmin Gene in a Patient with Heteroallelic Ceruloplasmin Gene Mutation (HypoCPGM)

Published:2000 Issue:3 Volume:191 Page:119-125
ISSN:0040-8727
Container-title:The Tohoku Journal of Experimental Medicine
language:en
Short-container-title:Tohoku J. Exp. Med.

Author:

Daimon Makoto¹,Susa Shinji¹,Ohizumi Toshihide¹,Moriai Satoko¹,Kawanami Toru¹,Hirata Akihiko¹,Yamaguchi Hiroshi¹,Ohnuma Hiroshi¹,Igarashi Masahiko¹,Kato Takeo¹

Affiliation:

1. The Third Department of Internal Medicine, Yamagata University School of Medicine

Publisher

Tohoku University Medical Press

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

http://www.jstage.jst.go.jp/article/tjem/191/3/191_3_119/_pdf

Reference17 articles.

1. The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene

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

3. Hypocaeruloplasminaemia with heteroallelic caeruloplasmin gene mutation: MRI of the brain

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