Identification of a Novel Missense Mutation in the Sterol 27-Hydroxylase Gene in Two Japanese Patients with Cerebrotendinous Xanthomatosis-Reference-Cited by-同舟云学术

Identification of a Novel Missense Mutation in the Sterol 27-Hydroxylase Gene in Two Japanese Patients with Cerebrotendinous Xanthomatosis

Published:2010 Issue:12 Volume:49 Page:1127-1131
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Nozue Tsuyoshi¹²,Higashikata Toshinori²³,Inazu Akihiro⁴,Kawashiri Masa-aki²,Nohara Atsushi⁵,Kobayashi Junji⁵,Koizumi Junji⁶,Yamagishi Masakazu²,Mabuchi Hiroshi⁵

Affiliation:

1. Division of Cardiology, Department of Internal Medicine, Yokohama Sakae Kyosai Hospital, Federation of National Public Service Personnel Mutual Associations

2. Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Science

3. Division of Cardiovascular Medicine, Department of Internal Medicine, Komatsu Municipal Hospital

4. Division of Health Sciences, Kanazawa University Graduate School of Medical Science

5. Department of Lipidology, Kanazawa University Graduate School of Medical Science

6. Department of General Medicine, Kanazawa University Hospital

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

http://www.jstage.jst.go.jp/article/internalmedicine/49/12/49_12_1127/_pdf

Reference24 articles.

1. 1. Bjorkhem I, Muri-Boberg K, Leitersdorf E. Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol. In: The Metabolic Basis of Inherited Diseases. 8th Ed. Scriver CR, Beaudet AL, Sly WS, Valle D, Eds. McGraw-Hill, New York, 2001: 2961-2988.

2. Cerebrotendinous xanthomatosis: Clinical and biochemical evaluation of eight patients and review of the literature

3. Cerebrotendinous Xanthomatosis with Cerebellar Ataxia as the Chief Symptom

4. Atherogenic risk factors in cerebrotendinous xanthomatosis

5. Quantitative analysis of sterols in serum by high-performance liquid chromatography

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