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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
1992-7-31
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pubmed:abstractText |
Linkage of the anonymous marker D3S2 at 3p21 has been shown in three British families with dominant dystrophic epidermolysis bullosa with a combined lod score of 6.75 at theta = 0. This locus is close to the collagen type VII locus implying that abnormalities of this gene cause dominant dystrophic epidermolysis bullosa.
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pubmed:commentsCorrections |
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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 |
Jun
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pubmed:issn |
0022-2593
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
29
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
381-2
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:1377750-Chromosomes, Human, Pair 3,
pubmed-meshheading:1377750-Collagen,
pubmed-meshheading:1377750-Deoxyribonuclease HpaII,
pubmed-meshheading:1377750-Deoxyribonucleases, Type II Site-Specific,
pubmed-meshheading:1377750-Epidermolysis Bullosa Dystrophica,
pubmed-meshheading:1377750-Female,
pubmed-meshheading:1377750-Genes, Dominant,
pubmed-meshheading:1377750-Genetic Linkage,
pubmed-meshheading:1377750-Genetic Markers,
pubmed-meshheading:1377750-Humans,
pubmed-meshheading:1377750-Male,
pubmed-meshheading:1377750-Pedigree,
pubmed-meshheading:1377750-Polymorphism, Restriction Fragment Length
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pubmed:year |
1992
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pubmed:articleTitle |
Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus.
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pubmed:affiliation |
Dermatology Research Group, Northwick Park Hospital, Harrow, Middlesex.
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pubmed:publicationType |
Journal Article
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