Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
2008-2-22
pubmed:abstractText
Transthyretin (TTR) variants of familial amyloid neuropathies (FAP) form a heterogenous group of autosomal dominantly inherited diseases. TTR gene analysis in several nationalities (Japanese, Portuguese, French, and British) has shown many distinguishing characteristics in the genotype-phenotype correlation. In Chinese, there are only a few reports of private TTR gene mutations belonging to single kindred.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0022-510X
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
267
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
91-9
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed-meshheading:18022643-Aged, pubmed-meshheading:18022643-Alanine, pubmed-meshheading:18022643-Amino Acid Substitution, pubmed-meshheading:18022643-Amyloid Neuropathies, Familial, pubmed-meshheading:18022643-Asian Continental Ancestry Group, pubmed-meshheading:18022643-Axons, pubmed-meshheading:18022643-DNA Mutational Analysis, pubmed-meshheading:18022643-Female, pubmed-meshheading:18022643-Gene Frequency, pubmed-meshheading:18022643-Genetic Markers, pubmed-meshheading:18022643-Genetic Predisposition to Disease, pubmed-meshheading:18022643-Genetic Testing, pubmed-meshheading:18022643-Genotype, pubmed-meshheading:18022643-Humans, pubmed-meshheading:18022643-Male, pubmed-meshheading:18022643-Middle Aged, pubmed-meshheading:18022643-Mutation, Missense, pubmed-meshheading:18022643-Peripheral Nerves, pubmed-meshheading:18022643-Phenotype, pubmed-meshheading:18022643-Prealbumin, pubmed-meshheading:18022643-Serine, pubmed-meshheading:18022643-Taiwan, pubmed-meshheading:18022643-Wallerian Degeneration
pubmed:year
2008
pubmed:articleTitle
Transthyretin Ala97Ser in Chinese-Taiwanese patients with familial amyloid polyneuropathy: genetic studies and phenotype expression.
pubmed:affiliation
The Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.
pubmed:publicationType
Journal Article, Case Reports