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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 |
1992-3-3
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pubmed:databankReference |
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pubmed:abstractText |
We characterized the mutation associated with familial amyloidotic polyneuropathy in a Japanese patient. Sequence analysis of polymerase chain reaction-amplified exons of the transthyretin gene revealed a novel point mutation resulting in a substitution of arginine for glycine at position 47. The mutation was confirmed using allele-specific olgonucleotide hybridization procedures. This most likely represents a de novo mutation since neither parent carries the mutant allele.
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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 |
Jan
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pubmed:issn |
0006-291X
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:day |
31
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pubmed:volume |
182
|
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pubmed:owner |
NLM
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|
pubmed:authorsComplete |
Y
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pubmed:pagination |
520-6
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:1734866-Adult,
pubmed-meshheading:1734866-Alleles,
pubmed-meshheading:1734866-Amino Acid Sequence,
pubmed-meshheading:1734866-Amyloidosis,
pubmed-meshheading:1734866-Base Sequence,
pubmed-meshheading:1734866-Exons,
pubmed-meshheading:1734866-Female,
pubmed-meshheading:1734866-Genotype,
pubmed-meshheading:1734866-Heterozygote Detection,
pubmed-meshheading:1734866-Humans,
pubmed-meshheading:1734866-Male,
pubmed-meshheading:1734866-Molecular Sequence Data,
pubmed-meshheading:1734866-Mutation,
pubmed-meshheading:1734866-Nervous System Diseases,
pubmed-meshheading:1734866-Oligodeoxyribonucleotides,
pubmed-meshheading:1734866-Pedigree,
pubmed-meshheading:1734866-Polymerase Chain Reaction,
pubmed-meshheading:1734866-Prealbumin
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pubmed:year |
1992
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pubmed:articleTitle |
A novel transthyretin mutation associated with familial amyloidotic polyneuropathy.
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pubmed:affiliation |
First Department of Internal Medicine, Kumamoto University Medical School, Japan.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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