Compounds > valine

valine and Ehlers-Danlos Syndrome

valine has been researched along with Ehlers-Danlos Syndrome in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's3 (75.00)18.2507
2000's1 (25.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Coucke, PJ; De Paepe, A; Legius, E; Malfait, F; Nuytinck, L; Symoens, S1
De Paepe, A; Kuivaniemi, H; Madhatheri, S; Nuytinck, L; Tromp, G1
Adriaens, F; De Paepe, A; Leroy, J; Nuytinck, L; Renard, JP1
De Paepe, A; Lloyd, JC; Narcisi, P; Pope, FM; Richards, AJ; Ward, PN1

Other Studies

4 other study(ies) available for valine and Ehlers-Danlos Syndrome

ArticleYear
Met>Val substitution in a highly conserved region of the pro-alpha1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype.
    Journal of medical genetics, 2004, Volume: 41, Issue:7

    Topics: Alleles; Alternative Splicing; Amino Acid Substitution; Base Sequence; Child; Collagen; Collagen Type I; Collagen Type I, alpha 1 Chain; Conserved Sequence; Ehlers-Danlos Syndrome; Female; Fibroblasts; Humans; Methionine; Molecular Sequence Data; Osteogenesis Imperfecta; Peptide Fragments; Phenotype; Procollagen; Protein Precursors; RNA, Messenger; Skin; Valine

2004
Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.
    Human mutation, 1995, Volume: 5, Issue:2

    Topics: Adolescent; Adult; Aged; Aged, 80 and over; Codon; DNA, Complementary; Ehlers-Danlos Syndrome; Female; Glycine; Humans; Male; Pedigree; Phenotype; Point Mutation; Polymerase Chain Reaction; Procollagen; Valine

1995
Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.
    Human mutation, 1994, Volume: 3, Issue:3

    Topics: Adolescent; Amino Acid Sequence; Cells, Cultured; Collagen; Ehlers-Danlos Syndrome; Female; Fibroblasts; Genetic Techniques; Glycine; Humans; Male; Point Mutation; Polymerase Chain Reaction; Polymorphism, Genetic; Procollagen; Restriction Mapping; Skin; Valine

1994
Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.
    Journal of medical genetics, 1991, Volume: 28, Issue:7

    Topics: Alleles; Amino Acid Sequence; Base Sequence; Collagen; DNA; DNA Mutational Analysis; Ehlers-Danlos Syndrome; Female; Glycine; Humans; Middle Aged; Molecular Sequence Data; Nucleic Acid Hybridization; Polymerase Chain Reaction; Valine

1991