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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2011-2-17
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pubmed:abstractText |
The inversa type of recessive dystrophic epidermolysis bullosa (RDEB-I) is a rare variant of dystrophic epidermolysis bullosa, characterised by blistering in the body flexures, trunk, and mucosa. The cause of this specific distribution is unknown. So far, 20 COL7A1 genotypes have been described in RDEB-I and genotype-phenotype correlations have not been studied extensively. The aim of the study was to gain more insight into the pathophysiology of this intriguing RDEB-I phenotype.
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pubmed:grant |
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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 |
Mar
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pubmed:issn |
1468-6244
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pubmed:author |
pubmed-author:Dopping-HepenstalPatricia J CPJ,
pubmed-author:HofstraRobert M WRM,
pubmed-author:JobLL,
pubmed-author:JonkmanMarcel FMF,
pubmed-author:MartinezAnna EAE,
pubmed-author:McGrathJohn AJA,
pubmed-author:MeijerRowdyR,
pubmed-author:MellerioJemima EJE,
pubmed-author:SchefferHansH,
pubmed-author:van EssenAnthonie JAJ,
pubmed-author:van den AkkerPeter CPC
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pubmed:issnType |
Electronic
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pubmed:volume |
48
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
160-7
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pubmed:meshHeading |
pubmed-meshheading:21113014-Adolescent,
pubmed-meshheading:21113014-Amino Acid Substitution,
pubmed-meshheading:21113014-Arginine,
pubmed-meshheading:21113014-Child,
pubmed-meshheading:21113014-Child, Preschool,
pubmed-meshheading:21113014-Cohort Studies,
pubmed-meshheading:21113014-Collagen Type VII,
pubmed-meshheading:21113014-Epidermolysis Bullosa Dystrophica,
pubmed-meshheading:21113014-Genes, Recessive,
pubmed-meshheading:21113014-Genetic Association Studies,
pubmed-meshheading:21113014-Genotype,
pubmed-meshheading:21113014-Glycine,
pubmed-meshheading:21113014-Humans,
pubmed-meshheading:21113014-Infant,
pubmed-meshheading:21113014-Mutation, Missense,
pubmed-meshheading:21113014-Phenotype,
pubmed-meshheading:21113014-Skin
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pubmed:year |
2011
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pubmed:articleTitle |
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.
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pubmed:affiliation |
Department of Genetics, University Medical Center Groningen, Hanzeplein 1, PO Box 30.001, 9700 RB Groningen, The Netherlands. p.c.van.den.akker@medgen.umcg.nl
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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