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DESCRIBE <http://purl.uniprot.org/SHA-384/DD4F26F268BBF4E5895861B018E60F1F4498F896A5E4F7810C54E4137BE7FFFA9D00811D7FDFE379BC1EAB60393BDECD>
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http://purl.uniprot.org/SHA-384/DD4F26F268BBF4E5895861B018E60F1F4498F896A5E4F7810C54E4137BE7FFFA9D00811D7FDFE379BC1EAB60393BDECD
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/DD4F26F268BBF4E5895861B018E60F1F4498F896A5E4F7810C54E4137BE7FFFA9D00811D7FDFE379BC1EAB60393BDECD
http://www.w3.org/2000/01/rdf-schema#comment
"A report of two siblings with Farber disease who carry a novel V97G ASAH1 mutation with the parents and a sister being asymptomatic carriers."
xsd:string
http://purl.uniprot.org/uniprot/#_E39C678DFB926C83AFED60220DF147F22F704A1880E168807DDC2E309342EF5BFCEBCE51413CCEF268F6D30EB8E96A3E
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/DD4F26F268BBF4E5895861B018E60F1F4498F896A5E4F7810C54E4137BE7FFFA9D00811D7FDFE379BC1EAB60393BDECD
http://purl.uniprot.org/uniprot/Q9H715
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/DD4F26F268BBF4E5895861B018E60F1F4498F896A5E4F7810C54E4137BE7FFFA9D00811D7FDFE379BC1EAB60393BDECD
http://purl.uniprot.org/uniprot/#_Q9H715-mappedCitation-21893389
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/DD4F26F268BBF4E5895861B018E60F1F4498F896A5E4F7810C54E4137BE7FFFA9D00811D7FDFE379BC1EAB60393BDECD