Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2000093 | Molecular Genetics and Metabolism | 2007 | 4 Pages |
Abstract
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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Authors
Toshiyuki Fukao, Gaixiu Zhang, Yusuke Aoki, Takahiro Arai, Takahide Teramoto, Hideo Kaneko, Hideo Sugie, Naomi Kondo,