Specific alleles of CLN7/MFSD8, a protein that localizes to photoreceptor synaptic terminals, cause a spectrum of nonsyndromic retinal dystrophy

Medicine and Dentistry

• Retina Dystrophy 100%
• Maculopathy 100%
• Photoreceptor 100%
• Allele 100%
• Retina Disease 66%
• Retinopathy 66%
• Confocal Microscopy 33%
• Agents Acting on the Eye 33%
• Immunohistology 33%
• Flushing 33%
• Synapse 33%
• Next Generation Sequencing 33%
• Genomic DNA 33%
• Neurologic Disease 33%
• Batten Disease 33%
• Rod-Cone Dystrophy 33%
• Retinal Imaging 33%
• Phototransduction 33%
• Electroretinography 33%
• Outer Plexiform Layer 33%
• Immunofluorescence 33%
• Electrophysiology 33%
• Exome 33%

Neuroscience

• Photoreceptor 100%
• Retinal Dystrophy 100%
• Maculopathy 100%
• Synapse 33%
• Electrophysiology 33%
• Confocal Microscopy 33%
• Neuronal Ceroid Lipofuscinosis 33%
• Rod-Cone Dystrophy 33%
• Electroretinography 33%
• Immunofluorescence 33%
• Genomic DNA 33%
• Phototransduction 33%

Biochemistry, Genetics and Molecular Biology

• Maculopathy 100%
• Allele 100%
• Immunofluorescence 33%
• Next Generation Sequencing 33%
• Confocal Microscopy 33%
• Exome 33%
• Synapse 33%
• Flushing 33%
• Batten Disease 33%
• Neuronal Ceroid Lipofuscinosis 33%
• Electrophysiology 33%
• Phototransduction 33%
• Electroretinography 33%