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146 Difficulty in the diagnosis of X-linked PDHC deficiency due to a large deletion affecting the PDHA1 gene
W. Sperl, J. Koch, C. Rauscher, J. Zschocke, C. Fauth, J.A. MayrVolume:
10
Year:
2010
Language:
english
DOI:
10.1016/j.mito.2009.12.137
File:
PDF, 39 KB
english, 2010