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http://purl.uniprot.org/SHA-384/18D0889DEA874BC29021C6248622267304E378CD88D94FF0BFFAF3070FBEF07AD04463E0AE81497E8FA312A16B2A7520http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/18D0889DEA874BC29021C6248622267304E378CD88D94FF0BFFAF3070FBEF07AD04463E0AE81497E8FA312A16B2A7520http://www.w3.org/2000/01/rdf-schema#comment"Seventeen percent of the patients were compound heterozygous or homozygous for mutations in the gene LAMA3 59% carried mutations in both alleles of LAMB3 and 12% were homozygous for mutations in LAMC2. In nine patients with severe generalized JEB detection of two mutations in one of the genes LAMA3 LAMB3 or LAMC2 was not possible so the molecular basis of disease could not be clarified completely"xsd:string
http://purl.uniprot.org/uniprot/#_9818C217A811DE2850F0C0E37CB58A3BB9F8AF31CE7A464243C670DDA28145C8E52CBA6BB07E610794C4E8AE68841FCAhttp://www.w3.org/1999/02/22-rdf-syntax-ns#subjecthttp://purl.uniprot.org/SHA-384/18D0889DEA874BC29021C6248622267304E378CD88D94FF0BFFAF3070FBEF07AD04463E0AE81497E8FA312A16B2A7520
http://purl.uniprot.org/uniprot/L8E6V6http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/18D0889DEA874BC29021C6248622267304E378CD88D94FF0BFFAF3070FBEF07AD04463E0AE81497E8FA312A16B2A7520
http://purl.uniprot.org/uniprot/#_L8E6V6-mappedCitation-27375110http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/18D0889DEA874BC29021C6248622267304E378CD88D94FF0BFFAF3070FBEF07AD04463E0AE81497E8FA312A16B2A7520