Document Detail


Exclusion of the Friedreich ataxia gene from chromosome 19.
MedLine Citation:
PMID:  3475247     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Friedreich ataxia, a progressive neurodegenerative disorder, is an autosomal recessive disease with a carrier frequency of 1/110 in the United Kingdom. The pathophysiological basis for the disease is not known and the chromosomal location of the mutation remains unidentified. As part of an attempt to map the mutation using linked DNA markers, we demonstrate that the Friedreich ataxia gene is excluded from human chromosome 19. This study also demonstrates that the insulin receptor, which maps to chromosome 19 and may be associated with abnormal biochemical features in some patients, is not the basic defect.
Authors:
S Chamberlain; C S Worrall; S South; J Shaw; M Farrall; R Williamson
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  76     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1987 Jun 
Date Detail:
Created Date:  1987-09-01     Completed Date:  1987-09-01     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  186-90     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Alleles
Chromosome Mapping*
Chromosomes, Human, Pair 19*
DNA / genetics
Female
Friedreich Ataxia / genetics*
Gene Frequency
Genetic Markers
Humans
Linkage (Genetics)*
Male
Mutation
Nucleic Acid Hybridization
Pedigree
Receptor, Insulin / genetics
Chemical
Reg. No./Substance:
0/Genetic Markers; 9007-49-2/DNA; EC 2.7.10.1/Receptor, Insulin

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


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