Characterization of two common 5' polymorphisms in <it>PEX1 </it>and correlation to survival in PEX1 peroxisome biogenesis disorder patients

<p>Abstract</p> <p>Background</p> <p>Mutations in PEX1 are the most common primary cause of Zellweger syndrome. In addition to exonic mutations, deletions and splice site mutations two 5' polymorphisms at c.-137 and c.-53 with a potential influence on PEX1 protein...

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Main Authors: Thoms Sven (Author), Grønborg Sabine (Author), Rabenau Jana (Author), Ohlenbusch Andreas (Author), Rosewich Hendrik (Author), Gärtner Jutta (Author)
Format: Book
Published: BMC, 2011-08-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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