2.50
Hdl Handle:
http://hdl.handle.net/2336/93491
Title:
Mutation in cystatin C gene causes hereditary brain haemorrhage
Authors:
Palsdottir, A; Abrahamson, M; Thorsteinsson, L; Arnason, A; Olafsson, I; Grubb, A; Jensson, O
Citation:
Lancet. 1988, 2(8611):603-4
Issue Date:
10-Sep-1988
Abstract:
Hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant disorder in which a cysteine proteinase inhibitor, cystatin C, is deposited as amyloid fibrils in the cerebral arteries of patients and leads to massive brain haemorrhage and death in young adults. A full length cystatin C cDNA probe revealed a mutation in the codon for leucine at position 68 which abolishes an Alu I restriction site in the cystatin C gene of HCCAA patients. The Alu I marker has been used to show that this mutation is transmitted only in affected members of all eight families investigated, and that the mutated cystatin C gene causes HCCAA.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://dx.doi.org/10.1016/S0140-6736(88)90641-1

Full metadata record

DC FieldValue Language
dc.contributor.authorPalsdottir, Aen
dc.contributor.authorAbrahamson, Men
dc.contributor.authorThorsteinsson, Len
dc.contributor.authorArnason, Aen
dc.contributor.authorOlafsson, Ien
dc.contributor.authorGrubb, Aen
dc.contributor.authorJensson, Oen
dc.date.accessioned2010-03-03T14:02:45Z-
dc.date.available2010-03-03T14:02:45Z-
dc.date.issued1988-09-10-
dc.date.submitted2010-03-03-
dc.identifier.citationLancet. 1988, 2(8611):603-4en
dc.identifier.issn0140-6736-
dc.identifier.pmid2900981-
dc.identifier.doi10.1016/S0140-6736(88)90641-1-
dc.identifier.urihttp://hdl.handle.net/2336/93491-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractHereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant disorder in which a cysteine proteinase inhibitor, cystatin C, is deposited as amyloid fibrils in the cerebral arteries of patients and leads to massive brain haemorrhage and death in young adults. A full length cystatin C cDNA probe revealed a mutation in the codon for leucine at position 68 which abolishes an Alu I restriction site in the cystatin C gene of HCCAA patients. The Alu I marker has been used to show that this mutation is transmitted only in affected members of all eight families investigated, and that the mutated cystatin C gene causes HCCAA.en
dc.language.isoenen
dc.publisherLancet Publishing Groupen
dc.relation.urlhttp://dx.doi.org/10.1016/S0140-6736(88)90641-1en
dc.subject.meshCerebral Hemorrhageen
dc.subject.meshCerebrospinal Fluid Proteinsen
dc.subject.meshCystatin Cen
dc.subject.meshCystatinsen
dc.subject.meshFemaleen
dc.subject.meshGenetic Markersen
dc.subject.meshHumansen
dc.subject.meshMaleen
dc.subject.meshMutationen
dc.subject.meshPolymorphism, Restriction Fragment Lengthen
dc.subject.meshProtease Inhibitorsen
dc.subject.meshProteinsen
dc.titleMutation in cystatin C gene causes hereditary brain haemorrhageen
dc.typeArticleen
dc.contributor.departmentNational Hospital, University of Iceland, Reykjavik.en
dc.identifier.journalLanceten

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