Compounds > arginine

arginine and Genetic Diseases, Inborn

arginine has been researched along with Genetic Diseases, Inborn in 4 studies

Research

Studies (4)

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

Authors

AuthorsStudies
Battaglia, M; Bosticardo, M; Casati, A; Cavazzana-Calvo, M; Facchetti, F; Frascoli, L; Gougeon, ML; Grassi, F; Lemercier, B; Marrella, V; Notarangelo, LD; Poliani, PL; Ravanini, M; Roncarolo, MG; Rucci, F; Vezzoni, P; Villa, A1
Baitei, EY; Raef, H; Shi, Y; Zou, M1
Auer-Grumbach, M; Bagg, W; Colclough, K; Ellard, S; Fenton-May, J; Hattersley, A; Hudson, J; Jardine, P; Josifova, D; Longman, C; McWilliam, R; Nguyen, TD; Owen, K; Rankin, J; Walker, M; Wehnert, M1
Barbetti, F; Bonora, E; Cama, A; Gejman, PV; Moghetti, P; Muggeo, M; Pizzo, P; Raben, N; Roth, J; Taylor, SI1

Other Studies

4 other study(ies) available for arginine and Genetic Diseases, Inborn

ArticleYear
A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome.
    The Journal of clinical investigation, 2007, Volume: 117, Issue:5

    Topics: Amino Acid Substitution; Animals; Arginine; Cells, Cultured; Disease Models, Animal; DNA-Binding Proteins; Genetic Diseases, Inborn; Glutamine; Humans; Immune Tolerance; Immunologic Deficiency Syndromes; Mice; Mice, Inbred C57BL; Mice, Mutant Strains; Mice, Transgenic; Mutagenesis, Site-Directed

2007
Genotype-phenotype correlation in a family with primary cortisol resistance: possible modulating effect of the ER22/23EK polymorphism.
    European journal of endocrinology, 2008, Volume: 158, Issue:4

    Topics: Adrenal Gland Diseases; Adult; Amino Acid Substitution; Arginine; Family; Genetic Diseases, Inborn; Genotype; Glutamic Acid; Heterozygote; Homozygote; Humans; Hydrocortisone; Lysine; Male; Phenotype; Polymorphism, Genetic; Receptors, Glucocorticoid

2008
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.
    American journal of medical genetics. Part A, 2008, Jun-15, Volume: 146A, Issue:12

    Topics: Adolescent; Adult; Amino Acid Substitution; Arginine; Child; Cysteine; Female; Genetic Diseases, Inborn; Humans; Lamin Type A; Male; Middle Aged; Mutation, Missense; Penetrance; Phenotype

2008
Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis.
    Diabetes, 1992, Volume: 41, Issue:4

    Topics: Alanine; Alleles; Arginine; Base Sequence; Child; DNA; Electrophoresis, Polyacrylamide Gel; Exons; Female; Gene Amplification; Genetic Diseases, Inborn; Genetic Testing; Genetic Variation; Humans; Molecular Sequence Data; Mutation; Nucleic Acid Denaturation; Polymerase Chain Reaction; Polymorphism, Genetic; Receptor, Insulin

1992