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    
Abstract/OtherAbstract:
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.
Authors:
O Jensson; A Palsdottir; L Thorsteinsson; A Arnason
Related Documents :
11389157 - The -48 c/t polymorphism in the presenilin 1 promoter is associated with an increased r...
8344667 - Mendelian phenotypes in the netherlands.
12655497 - Mutation screening of foxp2 in individuals diagnosed with autistic disorder.
11684347 - A novel presenilin mutation (m233v) causing very early onset alzheimer's disease with l...
23346057 - Targeting the intracellular environment in cystic fibrosis: restoring autophagy as a no...
19046977 - E. coli mismatch repair acts downstream of replication fork stalling to stabilize the e...
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    
Affiliation:
Blood Bank, National University Hospital, Reykjavik, Iceland.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Amyloidosis / complications,  genetics*
Cerebral Hemorrhage / etiology*,  genetics
Cerebrospinal Fluid Proteins / genetics*
Cerebrovascular Disorders / complications,  genetics*
Cystatin C
Cystatins / genetics*
Genetics, Medical
Humans
Iceland
Mutation*
Chemical
Reg. No./Substance:
0/CST3 protein, human; 0/Cerebrospinal Fluid Proteins; 0/Cystatin C; 0/Cystatins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Genetic epidemiology of Greenland.
Next Document:  Impact, logistics and prospects of traditional prenatal diagnosis.