LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition

Wolf-Hirschhorn syndrome (WHS) represents an archetypical example of a contiguous gene deletion disorder - a condition comprising a complex set of developmental phenotypes with a multigenic origin. Epileptic seizures, intellectual disability, growth restriction, motor delay and hypotonia are major c...

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Main Authors: Lesley Hart (Author), Anita Rauch (Author), Antony M. Carr (Author), Joris R. Vermeesch (Author), Mark O'Driscoll (Author)
Format: Book
Published: The Company of Biologists, 2014-05-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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