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15q11.2-13 Duplication, Mitochondrial Dysfunction and Developmental Disorders

Multiple developmental phenotypes have been associated with duplication in the 15q11-13 region. Recently, the 15q11-13 duplication has been associated with a distinct pattern of mitochondrial abnormality that includes a deficiency in complex III. This report describes the third case with this duplic...

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Hlavní autor: Frye, Richard E.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2009
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2919279/
https://ncbi.nlm.nih.gov/pubmed/19535813
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0883073809333531
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