proline has been researched along with Eye Diseases, Hereditary in 3 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 1 (33.33) | 18.2507 |
2000's | 1 (33.33) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 1 (33.33) | 2.80 |
Authors | Studies |
---|---|
Bai, Y; Li, Y; Xu, T; Zhang, W; Zhou, Q | 1 |
Boman, H; Bredrup, C; Knappskog, PM; Rødahl, E | 1 |
Abrahamson, M; Andréasson, S; Ehinger, B; Fex, G; Polland, W; Ponjavic, V | 1 |
3 other study(ies) available for proline and Eye Diseases, Hereditary
Article | Year |
---|---|
Novel compound heterozygous variants of tyrosinase gene in an isolated foveal hypoplasia patient without nystagmus.
Topics: Amino Acid Sequence; Angiography; Child; Computer Simulation; Exome Sequencing; Eye; Eye Diseases, Hereditary; Female; Fovea Centralis; Heterozygote; Humans; Hydrophobic and Hydrophilic Interactions; Male; Models, Molecular; Monophenol Monooxygenase; Mutagenesis, Insertional; Mutation, Missense; Nystagmus, Congenital; Pedigree; Point Mutation; Proline; Protein Conformation; Sequence Alignment; Sequence Analysis, DNA; Sequence Homology, Amino Acid; Structure-Activity Relationship; Tomography, Optical Coherence | 2021 |
Clinical manifestation of a novel PAX6 mutation Arg128Pro.
Topics: Adult; Aged; Arginine; Cataract; Corneal Opacity; Eye Diseases, Hereditary; Eye Proteins; Female; Fovea Centralis; Homeodomain Proteins; Humans; Iris; Male; Middle Aged; Mutation, Missense; Nystagmus, Pathologic; Paired Box Transcription Factors; PAX6 Transcription Factor; Pedigree; Proline; Repressor Proteins; Retinal Diseases; Tomography, Optical Coherence | 2008 |
A mild phenotype of autosomal dominant retinitis pigmentosa is associated with the rhodopsin mutation Pro-267-Leu.
Topics: Adult; Chromosome Aberrations; Chromosome Disorders; Electroretinography; Exons; Eye Diseases, Hereditary; Family Health; Female; Genes, Dominant; Genetic Testing; Heterozygote; Humans; Male; Middle Aged; Pedigree; Phenotype; Point Mutation; Proline; Retinitis Pigmentosa; Rhodopsin; Sequence Analysis, DNA; Sweden; Visual Acuity | 1997 |