leucine and Abnormalities, Sex Chromosome

leucine has been researched along with Abnormalities, Sex Chromosome in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (50.00)18.2507
2000's2 (50.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Ariani, F; Borghgraef, M; Frints, SG; Froyen, G; Fryns, JP; Longo, I; Marynen, P; Meloni, I; Pescucci, C; Raynaud, M; Renieri, A; Schwartz, C1
Konno, T; Ohashi, Y; Tsuchiya, S1
Aldred, MJ; Crawford, PJ; Hart, PS; Hart, TC; Wright, JT; Wright, NJ1
Hidaka, T; Kinoshita, M; Kishi, M; Kurihara, T1

Other Studies

4 other study(ies) available for leucine and Abnormalities, Sex Chromosome

ArticleYear
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients.
    Journal of medical genetics, 2003, Volume: 40, Issue:1

    Topics: Adolescent; Adult; Amino Acid Substitution; Cell Extracts; Cell Line; Child; Chromosomes, Human, X; Coenzyme A Ligases; Female; Genetic Carrier Screening; Genetic Testing; Humans; Infant; Leucine; Lymphocytes; Male; Mental Retardation, X-Linked; Middle Aged; Molecular Diagnostic Techniques; Mutation, Missense; Pedigree; Proline; Repressor Proteins; Saccharomyces cerevisiae Proteins; Sex Chromosome Aberrations

2003
A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia.
    Journal of medical genetics, 1995, Volume: 32, Issue:1

    Topics: Adolescent; Agammaglobulinaemia Tyrosine Kinase; Agammaglobulinemia; Base Sequence; Child; DNA Primers; Humans; Leucine; Male; Molecular Sequence Data; Pedigree; Phenylalanine; Point Mutation; Protein-Tyrosine Kinases; Sex Chromosome Aberrations; X Chromosome

1995
Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations.
    Archives of oral biology, 2002, Volume: 47, Issue:4

    Topics: Amelogenesis Imperfecta; Amelogenin; Amino Acid Sequence; Amino Acid Substitution; Codon, Nonsense; Dental Enamel Proteins; DNA Mutational Analysis; Female; Frameshift Mutation; Genetic Linkage; Genotype; Histidine; Humans; Leucine; Male; Mutation, Missense; Pedigree; Phenotype; Protein Structure, Tertiary; Sex Chromosome Aberrations; X Chromosome

2002
The stabilizing effect of bestatin on the resting membrane potentials of X-linked muscular dystrophy mice.
    The Japanese journal of psychiatry and neurology, 1990, Volume: 44, Issue:3

    Topics: Animals; Diaphragm; Genetic Linkage; Injections, Intraperitoneal; Leucine; Membrane Potentials; Mice; Mice, Inbred C57BL; Muscular Dystrophy, Animal; Sex Chromosome Aberrations; X Chromosome

1990