Journal article icon

Journal article

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...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1093/hmg/4.2.279

Authors


More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
Journal:
Human molecular genetics More from this journal
Volume:
4
Issue:
2
Pages:
279-284
Publication date:
1995-02-01
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Language:
English
Keywords:
Pubs id:
pubs:35687
UUID:
uuid:1f4590ca-586c-4de8-8d90-5e5f767464f3
Local pid:
pubs:35687
Source identifiers:
35687
Deposit date:
2012-12-19

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP