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The utility of exon targeted array CGH in the diagnosis of mitochondrial related disorders

✍ Scribed by Hongli Zhan⁎; Fangyuan Li; Ellen Brundage; Amber Pursley; Jing Wang; Lee-Jun Wong


Book ID
116752189
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
63 KB
Volume
11
Category
Article
ISSN
1567-7249

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## Abstract Chromosome analysis is an important component to the diagnosis of congenital anomalies, developmental delay, and mental retardation. Routine chromosome analysis identifies aneuploidy and structural rearrangements greater than 5 Mb but cannot identify abnormalities of the telomeric regio