proline and Eye Diseases, Hereditary

proline has been researched along with Eye Diseases, Hereditary in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (33.33)18.2507
2000's1 (33.33)29.6817
2010's0 (0.00)24.3611
2020's1 (33.33)2.80

Authors

AuthorsStudies
Bai, Y; Li, Y; Xu, T; Zhang, W; Zhou, Q1
Boman, H; Bredrup, C; Knappskog, PM; Rødahl, E1
Abrahamson, M; Andréasson, S; Ehinger, B; Fex, G; Polland, W; Ponjavic, V1

Other Studies

3 other study(ies) available for proline and Eye Diseases, Hereditary

ArticleYear
Novel compound heterozygous variants of tyrosinase gene in an isolated foveal hypoplasia patient without nystagmus.
    Journal of human genetics, 2021, Volume: 66, Issue:5

    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.
    Archives of ophthalmology (Chicago, Ill. : 1960), 2008, Volume: 126, Issue:3

    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.
    Ophthalmic genetics, 1997, Volume: 18, Issue:2

    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