Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene

• Main Authors: Lin Shuan-Pei (Author), Chen Chih-Ping (Author), Lee Chien-Nan (Author), Lin Shin-Yu (Author), Hung Chia-Cheng (Author), Chao Mei-Chyn (Author), Chiou Shyh-Shin (Author), Su Yi-Ning (Author)
• Format: Book
• Published: BMC, 2011-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Retinoblastoma is caused by compound heterozygosity or homozygosity of retinoblastoma gene (<it>RB1</it>) mutations. In germline retinoblastoma, mutations in the <it>RB1 </it>gene predispose individuals to inc...