rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2002-3-21
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pubmed:abstractText |
Junctional epidermolysis bullosa (JEB) is a group of inherited blistering diseases characterized by epidermal-dermal separation resulting from mutations that affect the function of critical components of the basement membrane zone. This group of autosomal recessive diseases is especially prevalent in regions where consanguinity is common, such as the Middle East. However, the clinical and genetic epidemiology of JEB in this region remains largely unexplored.
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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 |
http://linkedlifedata.com/resource/pubmed/chemical/Autoantigens,
http://linkedlifedata.com/resource/pubmed/chemical/Carrier Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Cell Adhesion Molecules,
http://linkedlifedata.com/resource/pubmed/chemical/Collagen,
http://linkedlifedata.com/resource/pubmed/chemical/Cytoskeletal Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/DST protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Nerve Tissue Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Non-Fibrillar Collagens,
http://linkedlifedata.com/resource/pubmed/chemical/collagen type XVII,
http://linkedlifedata.com/resource/pubmed/chemical/kalinin
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0190-9622
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pubmed:author |
pubmed-author:BergmanReuvenR,
pubmed-author:FrossardPhilippeP,
pubmed-author:GershoniRuthR,
pubmed-author:KanaanMoienM,
pubmed-author:LestringantGilles GGG,
pubmed-author:MeneguzziGuerrinoG,
pubmed-author:NakanoAoiA,
pubmed-author:PapernaTamarT,
pubmed-author:PfendnerEllenE,
pubmed-author:PulkkinenLeenaL,
pubmed-author:RichardGabrieleG,
pubmed-author:SprecherEliE,
pubmed-author:UittoJouniJ
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pubmed:issnType |
Print
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pubmed:volume |
46
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
510-6
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:11907499-Autoantigens,
pubmed-meshheading:11907499-Carrier Proteins,
pubmed-meshheading:11907499-Cell Adhesion Molecules,
pubmed-meshheading:11907499-Collagen,
pubmed-meshheading:11907499-Consanguinity,
pubmed-meshheading:11907499-Cytoskeletal Proteins,
pubmed-meshheading:11907499-Epidermolysis Bullosa, Junctional,
pubmed-meshheading:11907499-Humans,
pubmed-meshheading:11907499-Middle East,
pubmed-meshheading:11907499-Mutation,
pubmed-meshheading:11907499-Nerve Tissue Proteins,
pubmed-meshheading:11907499-Non-Fibrillar Collagens,
pubmed-meshheading:11907499-Polymerase Chain Reaction,
pubmed-meshheading:11907499-Sequence Analysis, DNA,
pubmed-meshheading:11907499-Skin
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pubmed:year |
2002
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pubmed:articleTitle |
Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.
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pubmed:affiliation |
Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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