Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect
(Q80763956)
scientific article published on 23 February 2008
scientific article published on 23 February 2008
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Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect
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| description | scientific article published on 23 February 2008 |
External Links
| (P356) |
10.1093/HMG/DDN057
|
| (P698) |
18296749
|