Low penetrance of a <it>SDHB </it>mutation in a large Dutch paraganglioma family

• Main Authors: Jansen Jeroen C (Author), Romijn Johannes A (Author), Morreau Hans (Author), Stokkel Marcel PM (Author), Bonsing Bert A (Author), van Bunderen Patrick A (Author), de Miranda Noel F (Author), Woortman Sanne A (Author), Weiss Marjan M (Author), Hes Frederik J (Author), Vriends Annette HJT (Author), Bayley Jean-Pierre L (Author), Corssmit Eleonora PM (Author)
• 格式: 图书
• 出版: BMC, 2010-06-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Germline mutations of the succinate dehydrogenase subunit B gene (<it>SDHB</it>) predispose carriers for paragangliomas, and current estimates of the chance of mutation carriers actually developing tumors (penetrance) are...