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Mutations in human IFT140 cause non-syndromic retinal degeneration

Human Genetics

Jul 29, 2015

Mingchu XuRui Chen

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

Study
Genes
IFT140
Molecular Diagnosis
Nucleic Acid Sequencing
Retinal Diseases
Candidate Gene Identification
Whole Exome Sequencing
Etiology
Eyelash
1
1
21
Paper Details
References
  • References53
  • Citations10
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  • References53
  • Citations10
1

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Mutations in human IFT140 cause non-syndromic retinal degeneration

Human Genetics

Jul 29, 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

Study
Genes
IFT140
Molecular Diagnosis
Nucleic Acid Sequencing
Retinal Diseases
Candidate Gene Identification
Whole Exome Sequencing
Etiology
Eyelash
1
1
21

Similar Papers Found In These Feeds

Retinal Degeneration: Mitochondria

The feed focuses on the role of defective mitochondria and their early role in promoting retinal degeneration.

Neurogenetic Disorders

Neurogenetic disorders are caused by a defect in one or more genes affecting the differentiation and function of the neuroectoderm and its derivatives. Here is the latest research on neurogenetic disorders

Related Papers

Investigative Ophthalmology & Visual Science

Whole exome sequencing in Thai patients with retinitis pigmentosa reveals novel mutations in six genes

Investigative Ophthalmology & Visual ScienceMarch 13, 2014
Worapoj JindaLa-ongsri Atchaneeyasakul
Paper Details
References
  • References53
  • Citations10
12345...
  • References53
  • Citations10
1
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