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Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p.

Abstract:

Acetazolamide responsive hereditary paroxysmal cerebellar ataxia (APCA) is a rare autosomal dominant disorder characterized by attacks of cerebellar ataxia and dysarthria with normal or near normal neurologic function between attacks. A genome-wide search using polymorphic di- and tri-nucleotide repeats was initiated and the APCA locus was found to be linked to the short arm of chromosome 19 in two large kindreds. The microsatellite marker UT705 was found to be linked to the APCA locus with t...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/4.2.279

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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
Journal:
Human molecular genetics
Volume:
4
Issue:
2
Pages:
279-284
Publication date:
1995-02-01
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Source identifiers:
35687

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