Art

J-GLOBAL ID：201002228671272653   Reference number：10A0874794

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

COL3A1遺伝子に新規点変異を示したエーラース・ダンロス症候群IV型,脈管型

Author (12)： SADAKATA Rinako (Dep. of Respiratory Medicine, Saitama Medical Univ.) ,  HATAMOCHI Atsushi (Dep. of Dermatology, School of Medicine, Dokkyo Medical Univ.) ,  KODAMA Keiji (Dep. of Respiratory Medicine, Saitama Medical Univ.) ,  KODAMA Keiji (Dep. of General Internal Medicine, Saitama Medical Univ.) ,  KAGA Akiko (Dep. of Respiratory Medicine, Saitama Medical Univ.) ,  YAMAGUCHI Takefumi (Dep. of Respiratory Medicine, Saitama Medical Univ.) ,  SOMA Tomoyuki (Dep. of Respiratory Medicine, Saitama Medical Univ.) ,  USUI Yutaka (Dep. of Respiratory Medicine, Saitama Medical Univ.) ,  NAGATA Makoto (Dep. of Respiratory Medicine, Saitama Medical Univ.) ,  OHTAKE Akira (Dep. of Pediatrics, Saitama Medical Univ.) ,  HAGIWARA Koichi (Dep. of Respiratory Medicine, Saitama Medical Univ.) ,  KANAZAWA Minoru (Dep. of Respiratory Medicine, Saitama Medical Univ.)
Material： Internal Medicine (Web)  (Intern Med (Web))
Volume： 49  Issue： 16  Page： 1797-1800 (J-STAGE)  Publication year： 2010 
JST Material Number： U0033A  ISSN： 1349-7235  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： type 3 collagen ,...

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JST classification (3)： Skin diseases  (GF03000Q) ,  Diagnostics of congenital diseases, deformities.  (GD03020G) ,  Genetic variation  (EC01030Y)

Reference (11)：

• 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. Superti-Furga A, Gugler E, Gitzelmann R, Steinmann B. 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. J Biol Chem 263: 6226-6232, 1988.
• 3. Callewaert B, Malfait F, Loeys B, De Paepe A. Ehlers-danlos syndromes and marfan syndrome. Best Pract Res Clin Rheumatol 22: 165-189, 2008.
• 4. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-danlos syndromes: Revised nosology, villefranche, 1997. Ehlers-danlos national foundation (USA) and ehlers-danlos support group (UK). Am J Med Genet 77: 31-37, 1998.
• 5. Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of ehlers-danlos syndrome type iv, the vascular type. N Engl J Med 342: 673-680, 2000.

Terms in the title (4)： COL3A1遺伝子 ,  点変異 ,  エーラース・ダンロス症候群 ,  脈