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rdf:type |
|
|
lifeskim:mentions |
|
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pubmed:issue |
6
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pubmed:dateCreated |
2008-6-3
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pubmed:abstractText |
Peroxisome biogenesis disorders are a clinically and genetically heterogeneous group of very severe autosomal recessive disorders caused by impaired peroxisome biogenesis. The prototype of this group of disorders is the cerebro-hepato-renal syndrome of Zellweger.
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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 |
Jun
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pubmed:issn |
1468-6244
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pubmed:author |
|
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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 |
376-83
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pubmed:meshHeading |
pubmed-meshheading:18285423-Base Sequence,
pubmed-meshheading:18285423-DNA, Intergenic,
pubmed-meshheading:18285423-DNA Mutational Analysis,
pubmed-meshheading:18285423-Exons,
pubmed-meshheading:18285423-Fibroblasts,
pubmed-meshheading:18285423-Humans,
pubmed-meshheading:18285423-Immunoblotting,
pubmed-meshheading:18285423-Infant,
pubmed-meshheading:18285423-Liver,
pubmed-meshheading:18285423-Magnetic Resonance Imaging,
pubmed-meshheading:18285423-Male,
pubmed-meshheading:18285423-Membrane Proteins,
pubmed-meshheading:18285423-Molecular Sequence Data,
pubmed-meshheading:18285423-Mutation,
pubmed-meshheading:18285423-Peroxisomes,
pubmed-meshheading:18285423-Repressor Proteins,
pubmed-meshheading:18285423-Zellweger Syndrome
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pubmed:year |
2008
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pubmed:articleTitle |
Identification of a novel PEX14 mutation in Zellweger syndrome.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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