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Gene symbol: LAMB3. Disease: junctional epidermolysis bullosa, Herlitz variant.

H Schneider, C Muehle

Journal: Human genetics 2006;118(3-4):545

PMID: 16521295

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Abstract

Address: Children's Hospital and Department of Experimental Medicine I, Nikolaus fiebiger Centre of Molecular Medicine, University of Erlangen-Nuernberg, Germanyy. [email protected]
MeSH Terms: Amino Acid Substitution, Basement Membrane, Biopsy, Cell Adhesion Molecules, Codon, Nonsense, DNA Mutational Analysis, Epidermolysis Bullosa, Junctional, Humans, Mutation, Missense, Kalinin
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