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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 |
2010-2-26
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pubmed:abstractText |
The autosomal recessive hypercholesterolemia (ARH) gene is located on chromosome 1p35 and encodes a 308-amino acid protein containing a phosphotyrosine-binding domain. Several researchers have identified mutations of ARH that cause autosomal recessive hypercholesterolemia; however, it remains unknown whether this gene is involved in common hypercholesterolemia.
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pubmed:commentsCorrections |
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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 |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1880-3873
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pubmed:author |
pubmed-author:Harada-ShibaMarikoM,
pubmed-author:HaradaKojiK,
pubmed-author:KokuboYoshihiroY,
pubmed-author:MakinoHisashiH,
pubmed-author:MiyamotoYoshihiroY,
pubmed-author:MorisakiHirokoH,
pubmed-author:MorisakiTakayukiT,
pubmed-author:OhtaNaotakaN,
pubmed-author:OkamuraTomonoriT,
pubmed-author:OkayamaAkiraA,
pubmed-author:SaitoYoshihikoY,
pubmed-author:TomoikeHitonobuH,
pubmed-author:TomonoriOkamuraO,
pubmed-author:YamanakaItaruI,
pubmed-author:YoshimasaYasunaoY
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pubmed:issnType |
Electronic
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pubmed:day |
26
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pubmed:volume |
17
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
131-40
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pubmed:dateRevised |
2010-6-22
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pubmed:meshHeading |
pubmed-meshheading:20124734-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:20124734-Alleles,
pubmed-meshheading:20124734-Cholesterol,
pubmed-meshheading:20124734-Cholesterol, LDL,
pubmed-meshheading:20124734-Chromatography, High Pressure Liquid,
pubmed-meshheading:20124734-Genes, Recessive,
pubmed-meshheading:20124734-Haplotypes,
pubmed-meshheading:20124734-Heterozygote,
pubmed-meshheading:20124734-Humans,
pubmed-meshheading:20124734-Hypercholesterolemia,
pubmed-meshheading:20124734-Japan,
pubmed-meshheading:20124734-Methionine,
pubmed-meshheading:20124734-Models, Genetic,
pubmed-meshheading:20124734-Mutation,
pubmed-meshheading:20124734-Phosphotyrosine,
pubmed-meshheading:20124734-Polymorphism, Genetic,
pubmed-meshheading:20124734-Protein Structure, Tertiary,
pubmed-meshheading:20124734-Threonine
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pubmed:year |
2010
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pubmed:articleTitle |
A novel Thr56Met mutation of the autosomal recessive hypercholesterolemia gene associated with hypercholesterolemia.
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pubmed:affiliation |
Department of Atherosclerosis and Diabetes, National Cardiovascular Center, Osaka, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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