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

• 主要な著者: Thoms Sven (著者), Grønborg Sabine (著者), Rabenau Jana (著者), Ohlenbusch Andreas (著者), Rosewich Hendrik (著者), Gärtner Jutta (著者)
• フォーマット: 図書
• 出版事項: BMC, 2011-08-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

<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...