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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2005-2-15
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pubmed:abstractText |
X-linked dystonia-deafness syndrome (Mohr-Tranebjaerg syndrome) is a rare neurodegenerative disease characterized by hearing loss and dystonia. So far, 7 mutations in the coding region of the DDP1 gene have been described. They consist of frameshift, nonsense, missense mutations or deletions.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0003-9942
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
62
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
306-8
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15710860-Adult,
pubmed-meshheading:15710860-DNA Mutational Analysis,
pubmed-meshheading:15710860-Deafness,
pubmed-meshheading:15710860-Family Health,
pubmed-meshheading:15710860-Female,
pubmed-meshheading:15710860-Genetic Diseases, X-Linked,
pubmed-meshheading:15710860-Humans,
pubmed-meshheading:15710860-Introns,
pubmed-meshheading:15710860-Male,
pubmed-meshheading:15710860-Membrane Transport Proteins,
pubmed-meshheading:15710860-Mutation,
pubmed-meshheading:15710860-Pedigree,
pubmed-meshheading:15710860-RNA, Messenger,
pubmed-meshheading:15710860-Reverse Transcriptase Polymerase Chain Reaction
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pubmed:year |
2005
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pubmed:articleTitle |
A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome.
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pubmed:affiliation |
Movement Disorders Unit, Department of Neurology, Institut Clínic de Malalties del Sistema Nerviós, Hospital Clínic Universitari de Barcelona, Barcelona, Spain.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
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