(original) (raw)

TY - CHAP AU - Daiger, Stephen P. AU - Sullivan, Lori S. AU - Bowne, Sara J. AU - Birch, David G. AU - Heckenlively, John R. AU - Pierce, Eric A. AU - Weinstock, George M. ED - Anderson, Robert E. ED - Hollyfield, Joe G. ED - LaVail, Matthew M. PY - 2010 DA - 2010// TI - Targeted High-Throughput DNA Sequencing for Gene Discovery in Retinitis Pigmentosa BT - Retinal Degenerative Diseases: Laboratory and Therapeutic Investigations SP - 325 EP - 331 PB - Springer New York CY - New York, NY AB - The causes of retinitis pigmentosa (RP) are highly heterogeneous, with mutations in more than 60 genes known to cause syndromic and non-syndromic forms of disease. The prevalence of detectable mutations in known genes ranges from 25 to 85%, depending on mode of inheritance. For example, the likelihood of detecting a disease-causing mutation in known genes in patients with autosomal dominant RP (adRP) is 60% in Americans and less in other populations. Thus many RP genes are still unknown or mutations lie outside of commonly tested regions. Furthermore, current screening strategies can be costly and time-consuming. SN - 978-1-4419-1399-9 UR - https://doi.org/10.1007/978-1-4419-1399-9\_37 DO - 10.1007/978-1-4419-1399-9_37 ID - Daiger2010 ER -