Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

Keyphrases

• Retinal Degeneration 100%
• Bardet-Biedl Syndrome 100%
• IFT172 100%
• Intraflagellar Transport 60%
• Ciliopathy 60%
• Primary Cilia 40%
• Whole Exome Sequencing 20%
• Retina 20%
• Genetic Disease 20%
• Nonsyndromic 20%
• Retinal Abnormalities 20%
• Disease-associated 20%
• Zebrafish 20%
• Hypomorphic mutation 20%
• Chlamydomonas 20%
• Cilia 20%
• Mild Phenotype 20%
• Functional Data 20%
• Syndromic Retinal Dystrophy 20%
• Skeletal Abnormalities 20%
• Gene Coding 20%
• Cell Culture 20%
• Functional Analysis 20%
• Rat Retina 20%
• Syndromic 20%
• Jeunes 20%
• Renal Abnormalities 20%
• Hepatic Abnormalities 20%
• Mainzer-Saldino Syndrome 20%
• Protein Trafficking 20%
• Mammalian Cells 20%
• Disease Spectrum 20%
• Associated Phenotypes 20%

Medicine and Dentistry

• Retina Degeneration 100%
• Ciliopathy 100%
• Bardet-Biedl Syndrome 100%
• Disease 66%
• Primary Cilium 66%
• Retina Dystrophy 33%
• Exome Sequencing 33%
• Cilium 33%
• Allele 33%
• Genetic Disorder 33%
• Mammalian Cell 33%
• Protein Targeting 33%
• Cell Culture 33%

Biochemistry, Genetics and Molecular Biology

• Cilium 100%
• Intraflagellar Transport 100%
• Exome Sequencing 33%
• Allele 33%
• Genetic Disorder 33%
• Protein Targeting 33%
• Chlamydomonas 33%
• Mammalian Cell 33%
• Zebra Fish 33%
• Cell Culture 33%