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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 |
2004-4-28
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pubmed:abstractText |
Glycine substitution mutations in COL7A1 not only cause dominant dystrophic epidermolysis bullosa (DDEB), but can also be silent mutations which lead to recessive dystrophic epidermolysis bullosa (RDEB) in combination with additional mutations in the other allele.
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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 |
May
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pubmed:issn |
0923-1811
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2004 Japanese Society for Investigative Dermatology
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pubmed:issnType |
Print
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pubmed:volume |
34
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
195-200
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15113589-Adult,
pubmed-meshheading:15113589-Amino Acid Substitution,
pubmed-meshheading:15113589-Collagen Type VII,
pubmed-meshheading:15113589-Epidermolysis Bullosa Dystrophica,
pubmed-meshheading:15113589-Family Health,
pubmed-meshheading:15113589-Female,
pubmed-meshheading:15113589-Genetic Heterogeneity,
pubmed-meshheading:15113589-Glycine,
pubmed-meshheading:15113589-Humans,
pubmed-meshheading:15113589-Male,
pubmed-meshheading:15113589-Pedigree,
pubmed-meshheading:15113589-Phenotype
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pubmed:year |
2004
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pubmed:articleTitle |
The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.
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pubmed:affiliation |
Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, Sapporo 060-8638, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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