A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency. [electronic resource]
Producer: 20121106Description: 130-4 p. digitalISSN:- 1439-1899
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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