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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2008-4-2
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pubmed:abstractText |
Smith-Lemli-Opitz syndrome (SLOS) (MIM 270 400) is an autosomal recessive multiple congenital anomalies/mental retardation syndrome caused by mutations in the Delta7-sterol reductase (DHCR7, E.C.1.3.1.21) gene. The prevalence of SLOS has been estimated to range between 1:15000 and 1:60000 in populations of European origin.
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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 |
Apr
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pubmed:issn |
1468-6244
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pubmed:author |
pubmed-author:BenlianPP,
pubmed-author:BertranpetitJJ,
pubmed-author:BiethEE,
pubmed-author:ChevyFF,
pubmed-author:ClusellasNN,
pubmed-author:EstivillXX,
pubmed-author:GaspariniGG,
pubmed-author:GirosMM,
pubmed-author:GruberMM,
pubmed-author:KelleyR IRI,
pubmed-author:Krajewska-WalasekMM,
pubmed-author:KrawczakMM,
pubmed-author:LabudaDD,
pubmed-author:MenzelJJ,
pubmed-author:MiettinenTT,
pubmed-author:OgorelkovaMM,
pubmed-author:RossiMM,
pubmed-author:ScalaII,
pubmed-author:SchönitzerDD,
pubmed-author:SchinzelAA,
pubmed-author:SchmidtKK,
pubmed-author:SchwentnerII,
pubmed-author:SeemanovaEE,
pubmed-author:SperlingKK,
pubmed-author:SyrrouMM,
pubmed-author:TalmudP JPJ,
pubmed-author:UtermannGG,
pubmed-author:Witsch-BaumgartnerMM,
pubmed-author:WollnikBB
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pubmed:issnType |
Electronic
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pubmed:volume |
45
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
200-9
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pubmed:meshHeading |
pubmed-meshheading:17965227-Alleles,
pubmed-meshheading:17965227-Animals,
pubmed-meshheading:17965227-Base Sequence,
pubmed-meshheading:17965227-DNA Primers,
pubmed-meshheading:17965227-Europe,
pubmed-meshheading:17965227-Evolution, Molecular,
pubmed-meshheading:17965227-Founder Effect,
pubmed-meshheading:17965227-Genetics, Population,
pubmed-meshheading:17965227-Haplotypes,
pubmed-meshheading:17965227-Humans,
pubmed-meshheading:17965227-Mutation,
pubmed-meshheading:17965227-Oxidoreductases Acting on CH-CH Group Donors,
pubmed-meshheading:17965227-Pan troglodytes,
pubmed-meshheading:17965227-Polymorphism, Single Nucleotide,
pubmed-meshheading:17965227-Smith-Lemli-Opitz Syndrome
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pubmed:year |
2008
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pubmed:articleTitle |
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
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pubmed:affiliation |
Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University Innsbruck, Schoepfstrasse 41, 6020 Innsbruck, Austria. Witsch-Baumgartner@i-med.ac.at
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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