Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy

Keyphrases

• Macular Dystrophy 100%
• Autosomal Recessive 100%
• Nonsyndromic 100%
• MFSD8 100%
• LAMP2 100%
• Electroretinography 50%
• Central Cone 50%
• Optical Coherence Tomography 33%
• Fundus Autofluorescence 33%
• Exome Sequencing 33%
• Maculopathy 33%
• Multifocal ERG 33%
• Neuronal Ceroid Lipofuscinosis 33%
• Visual Acuity 16%
• Visual Field 16%
• Age at Diagnosis 16%
• Lysosomal Storage Disease 16%
• Splicing Defect 16%
• Proband 16%
• Sanger Sequencing 16%
• Fundus 16%
• Skipping 16%
• Compound Heterozygous mutation 16%
• Multisystem 16%
• Heterozygous Missense Variant 16%
• Ophthalmic Examination 16%
• Genetic Defects 16%
• Genetic Modifiers 16%
• Fundus Photography 16%
• Medical History 16%
• Protein-truncating Variants 16%
• Neurologic 16%
• Multifocal Electroretinogram (mfERG) 16%
• Genome-wide Linkage Analysis 16%
• Genotype-phenotype 16%
• Perimetry 16%
• Transmembrane Protein 16%
• Large Families 16%
• Phenotype Model 16%
• Exon 11 16%
• Restriction Digestion 16%
• Color Blindness 16%

Biochemistry, Genetics and Molecular Biology

• Autosomal Recessive Inheritance 100%
• Electroretinography 100%
• Membrane Protein 100%
• Genetics 50%
• Exome Sequencing 50%
• Allele 50%
• Optics 50%
• Autofluorescence 50%
• Maculopathy 50%
• Infantile Neuronal Ceroid Lipofuscinosis 50%
• Visual Acuity 25%
• Visual Field 25%
• Genotyping 25%
• Exon 25%
• Proband 25%
• Missense 25%
• Sanger Sequencing 25%
• Splicing Defect 25%
• Lysosomal Storage Disease 25%
• Restriction Enzyme 25%
• Color Vision 25%
• Transmembrane Protein 25%
• Linkage Analysis 25%