The gene for Machado–Joseph disease maps to human chromosome 14q View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1993-07

AUTHORS

Y. Takiyama, M. Nishizawa, H. Tanaka, S. Kawashima, H. Sakamoto, Y. Karube, H. Shimazaki, M. Soutome, K. Endo, S. Ohta, Y. Kagawa, I. Kanazawa, Y. Mizuno, M. Yoshida, T. Yuasa, Y. Horikawa, K. Oyanagi, H. Nagai, T. Kondo, T. Inuzuka, O. Onodera, S. Tsuji

ABSTRACT

Machado–Joseph disease (MJD) is an autosomal dominant, multisystem neurodegenerative disorder involving predominantly cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems. Although it was first reported in families of Portuguese–Azorean descent, MJD has also been described in non–Azorean families from various countries, being one of the most common hereditary spinocerebellar degenerations. With the use of highly polymorphic microsatellite DNA polymorphisms, we have assigned the gene for MJD to the long arm of chromosome 14 (14q24.3–q32) by genetic linkage to microsatellite loci D14S55 and D14S48 (multipoint lod score Zmax=9.719). More... »

PAGES

300-304

Journal

TITLE

Nature Genetics

ISSUE

3

VOLUME

4

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng0793-300

DOI

http://dx.doi.org/10.1038/ng0793-300

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1051428769

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/8358439


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curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/ng0793-300'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng0793-300'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng0793-300'


 

This table displays all metadata directly associated to this object as RDF triples.

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