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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2010-9-21
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pubmed:abstractText |
Vascular-type Ehlers-Danlos syndrome (vEDS) is a severe autosomal dominant inherited disorder resulting from mutations within the ?1 type III collagen gene (COL3A1). The majority of published mutations are base changes leading to the substitution of single glycine residues within the triple-helical domain of type III collagen. Although clinical characteristics and mutations in the COL3A1 gene have been analysed for some patients from Europe and America, similar analyses have not yet been performed for Japanese patients with vEDS.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1365-2133
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pubmed:author |
pubmed-author:AokiYY,
pubmed-author:FunakoshiMM,
pubmed-author:HatamochiAA,
pubmed-author:HayashiSS,
pubmed-author:KoshiRR,
pubmed-author:KuniiEE,
pubmed-author:MACYI GIG,
pubmed-author:MakinoKK,
pubmed-author:MitsuhashiYY,
pubmed-author:OnoMM,
pubmed-author:ShimaokaYY,
pubmed-author:SuzukiTT,
pubmed-author:TanakaTT,
pubmed-author:Wataya-KanedaMM,
pubmed-author:YamazakiKK
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pubmed:copyrightInfo |
© 2010 The Authors. Journal Compilation © 2010 British Association of Dermatologists.
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pubmed:issnType |
Electronic
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pubmed:volume |
163
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
704-10
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pubmed:meshHeading |
pubmed-meshheading:20518783-Adolescent,
pubmed-meshheading:20518783-Adult,
pubmed-meshheading:20518783-Cells, Cultured,
pubmed-meshheading:20518783-Collagen Type III,
pubmed-meshheading:20518783-DNA Mutational Analysis,
pubmed-meshheading:20518783-Ehlers-Danlos Syndrome,
pubmed-meshheading:20518783-Female,
pubmed-meshheading:20518783-Fibroblasts,
pubmed-meshheading:20518783-Humans,
pubmed-meshheading:20518783-Male,
pubmed-meshheading:20518783-Point Mutation,
pubmed-meshheading:20518783-Skin,
pubmed-meshheading:20518783-Skin Diseases, Vascular,
pubmed-meshheading:20518783-Young Adult
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pubmed:year |
2010
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pubmed:articleTitle |
Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome.
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pubmed:affiliation |
Department of Dermatology, Dokkyo Medical University, School of Medicine, 880 Kitakobayashi, Mibu, Tochigi 321-0293, Japan.
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pubmed:publicationType |
Journal Article
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