|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
2
|
|
pubmed:dateCreated |
2007-2-19
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|
pubmed:abstractText |
Pseudoxanthoma elasticum is caused by mutations of the ABCC6 gene. We hereby report a case of pseudoxanthoma elasticum with clinical features dominated by early coronary involvement in addition to typical skin and ocular abnormalities. A 16-year-old survivor of acute myocardial infarction with 3-vessel coronary artery disease exhibited compound heterozygosity for the well-known nonsense mutation (c.3421C>T; R1141X) in exon 24 and a novel missense mutation (c.3662G>A; R1221H) in exon 26 of the ABCC6 gene.
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pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Mar
|
|
pubmed:issn |
1874-1754
|
|
pubmed:author |
pubmed-author:AslanidisCharalamposC,
pubmed-author:BodziochMarekM,
pubmed-author:Dembi?ska-Kie?AldonaA,
pubmed-author:DubielJacek SJS,
pubmed-author:DudekDariuszD,
pubmed-author:Kie?-WilkBeataB,
pubmed-author:MichalowskaJoannaJ,
pubmed-author:RakowskiTomaszT,
pubmed-author:SchmitzGerdG,
pubmed-author:Stachura-Dere?MariaM,
pubmed-author:SurdackiAndrzejA,
pubmed-author:SzastakGrzegorzG
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|
pubmed:issnType |
Electronic
|
|
pubmed:day |
20
|
|
pubmed:volume |
116
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
261-2
|
|
pubmed:meshHeading |
|
|
pubmed:year |
2007
|
|
pubmed:articleTitle |
Acute myocardial infarction and a new ABCC6 mutation in a 16-year-old boy with pseudoxanthoma elasticum.
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|
pubmed:publicationType |
Letter,
Case Reports
|
