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rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
5
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pubmed:dateCreated |
1997-1-23
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|
pubmed:abstractText |
We present a new Japanese family with hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia. The affected daughter and her asymptomatic father are heterozygous for a novel missense mutation that replaces His by Pro at codon 144 in the GTP cyclohydrolase I gene. Quantitative reverse transcription-polymerase chain reaction revealed a higher ratio of mutant/normal mRNA encoding GTP cyclohydrolase I in the patient. These results demonstrate the importance of mutant mRNA levels for phenotypic variability among cases with the same mutation.
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pubmed:language |
eng
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pubmed:journal |
|
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pubmed:citationSubset |
IM
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pubmed:chemical |
|
|
pubmed:status |
MEDLINE
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|
pubmed:month |
Nov
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pubmed:issn |
0364-5134
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
40
|
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pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
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|
pubmed:pagination |
796-8
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|
pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:8957022-Adult,
pubmed-meshheading:8957022-Amino Acid Sequence,
pubmed-meshheading:8957022-Base Sequence,
pubmed-meshheading:8957022-Circadian Rhythm,
pubmed-meshheading:8957022-Dystonia,
pubmed-meshheading:8957022-Exons,
pubmed-meshheading:8957022-Female,
pubmed-meshheading:8957022-GTP Cyclohydrolase,
pubmed-meshheading:8957022-Histidine,
pubmed-meshheading:8957022-Humans,
pubmed-meshheading:8957022-Introns,
pubmed-meshheading:8957022-Japan,
pubmed-meshheading:8957022-Levodopa,
pubmed-meshheading:8957022-Male,
pubmed-meshheading:8957022-Nuclear Family,
pubmed-meshheading:8957022-Point Mutation,
pubmed-meshheading:8957022-Polymerase Chain Reaction,
pubmed-meshheading:8957022-Proline,
pubmed-meshheading:8957022-RNA, Messenger
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pubmed:year |
1996
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pubmed:articleTitle |
Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset.
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pubmed:affiliation |
Department of Medical Genetics, Nara Medical University, Japan.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
