Mutations in human IFT140 cause non-syndromic retinal degeneration
Mutations in human IFT140 cause non-syndromic retinal degeneration
About this item
Full title
Author / Creator
Xu, Mingchu , Yang, Lizhu , Wang, Feng , Li, Huajin , Wang, Xia , Wang, Weichen , Ge, Zhongqi , Wang, Keqing , Zhao, Li , Li, Hui , Li, Yumei , Sui, Ruifang and Chen, Rui
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP) are two genetically heterogeneous retinal degenerative disorders. Despite the identification of a number of genes involved in LCA and RP, the genetic etiology remains unknown in many patients. In this study, we aimed to identify novel disease-causing genes of LCA and RP. Retinal capture...
Alternative Titles
Full title
Mutations in human IFT140 cause non-syndromic retinal degeneration
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4565766
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4565766
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-015-1586-x
