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Mutations in human IFT140 cause non-syndromic retinal degeneration

Human Genetics

Oct 1, 2015

Mingchu XuRui Chen

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Abstract

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 iden...read more

Mentioned in this Paper

Carrier Proteins
Cilia
DNA
Eyelash
Genes
Malignant Neoplasm of Retina
Retina
Retinal Degeneration
Retinal Diseases
Retinaldehyde
1
1
18
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Mutations in human IFT140 cause non-syndromic retinal degeneration

Human Genetics

Oct 1, 2015

Mingchu XuRui Chen

PMID: 26216056

DOI: 10.1007/s00439-015-1586-x

Abstract

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 iden...read more

Mentioned in this Paper

Carrier Proteins
Cilia
DNA
Eyelash
Genes
1
1
18

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