11862187

Source:http://linkedlifedata.com/resource/pubmed/id/11862187

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0026882, umls-concept:C0406557, umls-concept:C1413592, umls-concept:C2828389
pubmed:issue	3
pubmed:dateCreated	2002-2-25
pubmed:abstractText	We describe a patient with Kindler syndrome with an 18-year follow-up who was initially misdiagnosed as suffering from dystrophic epidermolysis bullosa. The patient's skin showed broad reticulate labeling for collagen VII and reduplication of the lamina densa. Screening of this patient's DNA excluded any pathogenic COL7A1 mutations.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/7907132
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Collagen Type VII
pubmed:status	MEDLINE
pubmed:month	Mar
pubmed:issn	0190-9622
pubmed:author	pubmed-author:McMillanJamesJ, pubmed-author:Sato-MatsumuraKazuko CKC, pubmed-author:ShimizuHiroshiH, pubmed-author:TsuchiyaKikuoK, pubmed-author:YasukawaKanaK
pubmed:issnType	Print
pubmed:volume	46
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	447-50
pubmed:dateRevised	2006-11-15
pubmed:meshHeading	pubmed-meshheading:11862187-Adolescent, pubmed-meshheading:11862187-Collagen Type VII, pubmed-meshheading:11862187-Diagnosis, Differential, pubmed-meshheading:11862187-Epidermolysis Bullosa Dystrophica, pubmed-meshheading:11862187-Humans, pubmed-meshheading:11862187-Male, pubmed-meshheading:11862187-Mutation, pubmed-meshheading:11862187-Photosensitivity Disorders, pubmed-meshheading:11862187-Rothmund-Thomson Syndrome, pubmed-meshheading:11862187-Skin Diseases, Genetic, pubmed-meshheading:11862187-Skin Diseases, Vesiculobullous, pubmed-meshheading:11862187-Syndrome
pubmed:year	2002
pubmed:articleTitle	Exclusion of COL7A1 mutation in Kindler syndrome.
pubmed:affiliation	Department of Dermatology, Hokkaido University Graduate School of Medicine, Kita 15, Nishi 7, Kita-Ku, Sapporo 060-8638, Japan. kanay@med.hokudai.ac.jp
pubmed:publicationType	Journal Article, Case Reports, Research Support, Non-U.S. Gov't