3621647

Source:http://linkedlifedata.com/resource/pubmed/id/3621647

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0017262, umls-concept:C0185117, umls-concept:C0432322, umls-concept:C0678941, umls-concept:C2911684
pubmed:issue	6
pubmed:dateCreated	1987-9-30
pubmed:abstractText	We report on a family with autosomal dominant dystrophic epidermolysis bullosa and congenital localized absence of skin, resembling the features of Bart's Syndrome. This type of epidermolysis bullosa and the Cockayne-Touraine and Pasini types may represent different expressions of the same gene defect.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0253664
pubmed:citationSubset	IM
pubmed:status	MEDLINE
pubmed:month	Jun
pubmed:issn	0009-9163
pubmed:author	pubmed-author:Bouwes BavinckJ NJN, pubmed-author:RuiterDD, pubmed-author:van HaeringenAA, pubmed-author:van der SchroeffJ GJG
pubmed:issnType	Print
pubmed:volume	31
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	416-24
pubmed:dateRevised	2004-11-17
pubmed:meshHeading	pubmed-meshheading:3621647-Alleles, pubmed-meshheading:3621647-Epidermolysis Bullosa, pubmed-meshheading:3621647-Genes, Dominant, pubmed-meshheading:3621647-Humans, pubmed-meshheading:3621647-Pedigree
pubmed:year	1987
pubmed:articleTitle	Autosomal dominant epidermolysis bullosa dystrophica: are the Cockayne-Touraine, the Pasini and the Bart-types different expressions of the same mutant gene?
pubmed:publicationType	Journal Article, Case Reports