Ehlers-Danlos Syndrome Type IV, Vascular Type, Which Demonstrated a Novel Point Mutation in the COL3A1 Gene-Reference-Cited by-同舟云学术

Ehlers-Danlos Syndrome Type IV, Vascular Type, Which Demonstrated a Novel Point Mutation in the COL3A1 Gene

Published:2010 Issue:16 Volume:49 Page:1797-1800
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Sadakata Rinako¹,Hatamochi Atsushi²,Kodama Keiji¹³,Kaga Akiko¹,Yamaguchi Takefumi¹,Soma Tomoyuki¹,Usui Yutaka¹,Nagata Makoto¹,Ohtake Akira⁴,Hagiwara Koichi¹,Kanazawa Minoru¹

Affiliation:

1. Department of Respiratory Medicine, Saitama Medical University

2. Department of Dermatology, School of Medicine, Dokkyo Medical University

3. Department of General Internal Medicine, Saitama Medical University

4. Department of Pediatrics, Saitama Medical University

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

http://www.jstage.jst.go.jp/article/internalmedicine/49/16/49_16_1797/_pdf

Reference11 articles.

1. 1. Pepin MG BP. Ehlers-danlos syndrome, vascular type. 2006. Available from: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=eds4

2. Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.

3. Ehlers-Danlos syndromes and Marfan syndrome

4. Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type

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