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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1-2
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pubmed:dateCreated |
2007-9-10
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pubmed:abstractText |
X-linked liver glycogenosis (XLG) is one of the most common glycogen storage diseases. We present the first case of a large PHKA2 gene deletion from intron 19 to intron 26 in an XLG patient. An aberrant cDNA with skipping of exons 20-26 was detected. Alu element-mediated unequal homologous recombination between an Alu-Jo in intron 19 and another Alu-Sg in intron 26 appears to be responsible for this deletion.
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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:issn |
1096-7192
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
92
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
179-82
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:17581768-Alu Elements,
pubmed-meshheading:17581768-Base Sequence,
pubmed-meshheading:17581768-Chromosomes, Human, X,
pubmed-meshheading:17581768-Exons,
pubmed-meshheading:17581768-Genes, X-Linked,
pubmed-meshheading:17581768-Genetic Linkage,
pubmed-meshheading:17581768-Glycogen Storage Disease Type VIII,
pubmed-meshheading:17581768-Humans,
pubmed-meshheading:17581768-Infant, Newborn,
pubmed-meshheading:17581768-Introns,
pubmed-meshheading:17581768-Liver,
pubmed-meshheading:17581768-Male,
pubmed-meshheading:17581768-Molecular Sequence Data,
pubmed-meshheading:17581768-Phosphorylase Kinase,
pubmed-meshheading:17581768-Polymerase Chain Reaction,
pubmed-meshheading:17581768-Sequence Deletion,
pubmed-meshheading:17581768-Sequence Homology, Nucleic Acid
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pubmed:articleTitle |
Identification of Alu-mediated, large deletion-spanning introns 19-26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency).
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pubmed:affiliation |
Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501-1194, Japan.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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