Document Detail


Molecular diagnostics facilitate distinction between lethal and non-lethal subtypes of junctional epidermolysis bullosa: a case report and review of the literature.
MedLine Citation:
PMID:  12447669     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
CONCLUSION: early antigen mapping using antibodies against the proteins affected in epidermolysis bullosa, is a useful tool providing early mutation analysis and valuable prognostic information needed for adequate therapeutic strategies. The recently published literature on current diagnostic procedures and the revised classification system for inherited epidermolysis bullosa aim towards a better understanding of the disease.
Authors:
Jürgen Bauer; Hauke Schumann; Karsten Sönnichsen; Maren Tomaske; Axel Bosk; Leena Bruckner-Tuderman; Gernot Rassner; Claus Garbe
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Publication Detail:
Type:  Case Reports; Journal Article; Review     Date:  2001-11-15
Journal Detail:
Title:  European journal of pediatrics     Volume:  161     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  2002 Dec 
Date Detail:
Created Date:  2002-11-26     Completed Date:  2003-04-15     Revised Date:  2013-05-20    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  672-9     Citation Subset:  IM    
Affiliation:
Department of Dermatology, Eberhard-Karls-University Tübingen, Liebermeisterstrasse 25, 72076 Tübingen, Germany. mail@j-bauer.de
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MeSH Terms
Descriptor/Qualifier:
Basement Membrane / pathology
Cell Adhesion Molecules / genetics
Codon, Nonsense
Epidermolysis Bullosa, Junctional / genetics*,  immunology,  pathology
Fatal Outcome
Female
Homozygote
Humans
Immunohistochemistry
Infant, Newborn
Sequence Analysis, DNA
Chemical
Reg. No./Substance:
0/Cell Adhesion Molecules; 0/Codon, Nonsense; 0/kalinin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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