Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa

• Main Authors: Huang Yukan (Author), Zhang Jing (Author), Li Chang (Author), Yang Guohua (Author), Liu Mugen (Author), Wang Qing K (Author), Tang Zhaohui (Author)
• Format: Book
• Published: BMC, 2010-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Retinitis pigmentosa is the most important hereditary retinal degenerative disease, which has a high degree of clinical and genetic heterogeneity. More than half of all cases of retinitis pigmentosa are autosomal recessive (arRP), bu...