Document Detail

The saga of cystatin C gene mutation causing amyloid angiopathy and brain hemorrhage--clinical genetics in Iceland.
MedLine Citation:
PMID:  2689007     Owner:  NLM     Status:  MEDLINE    
Firstly, we review investigations of hereditary cystatin C amyloid angiopathy, which is caused by a mutation in the cystatin C gene. Symptoms of brain haemorrhages, which lead to death in young adults, are the hallmark of this disorder. The mutation can now be detected by the RFLP method using Alu I restriction enzyme and cystatin C cDNA probe. Secondly, we give an overview of other clinical genetic studies in Iceland with emphasis on activities initiated or sponsored by the Genetical Committee of the University of Iceland. The list of references covers most publications on genetic studies of Icelanders.
O Jensson; A Palsdottir; L Thorsteinsson; A Arnason
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Clinical genetics     Volume:  36     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1989 Nov 
Date Detail:
Created Date:  1990-02-02     Completed Date:  1990-02-02     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  368-77     Citation Subset:  IM    
Blood Bank, National University Hospital, Reykjavik, Iceland.
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MeSH Terms
Amyloidosis / complications,  genetics*
Cerebral Hemorrhage / etiology*,  genetics
Cerebrospinal Fluid Proteins / genetics*
Cerebrovascular Disorders / complications,  genetics*
Cystatin C
Cystatins / genetics*
Genetics, Medical
Reg. No./Substance:
0/CST3 protein, human; 0/Cerebrospinal Fluid Proteins; 0/Cystatin C; 0/Cystatins

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