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Diagnosis of mitochondrial DNA depletion syndromes
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- Published on: 22 March 2016
- Published on: 22 March 2016Liver Transplantation and Genetic Testing for mtDNA depletionShow More
Dear Sir, I appreciate the review of mtDNA depletion provided by Drs Rahman & Poulton, and whole-heartedly agree with there opinion that oligo-arrayCGH is not a first line test for single gene disorders but rather is a follow on test when sequencing fails to detect 2 causal alleles.
However, in their perspective, they state: “a molecular diagnosis of dGK deficiency may be regarded as a useful prognostic ind...
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