Page last updated: 2024-08-17

lysine and Achondroplasia

lysine has been researched along with Achondroplasia in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (33.33)18.2507
2000's2 (66.67)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Almeida, M; Fernandes, H; Santos, HG; Wilkie, A; Wilkie, AO1
Buckley, MF; Elakis, G; Gardener, G; Inglis, G; Roscioli, T; Susman, RD; Zankl, A1
Ezquieta Zubicaray, B; González Gancedo, P; Gracia Bouthelier, R; Iguacel, AO; Jariego Fente, CM; Varela Junquera, JM1

Other Studies

3 other study(ies) available for lysine and Achondroplasia

ArticleYear
Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS.
    American journal of medical genetics. Part A, 2007, Feb-15, Volume: 143, Issue:4

    Topics: Achondroplasia; Adult; Aged; Amino Acid Substitution; Base Sequence; Codon; Female; Glycine; Humans; Lysine; Molecular Sequence Data; Mutation; Phenotype; Radiography; Receptor, Fibroblast Growth Factor, Type 3; Sequence Analysis, DNA; Skull

2007
Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.
    American journal of medical genetics. Part A, 2008, Jan-15, Volume: 146A, Issue:2

    Topics: Acanthosis Nigricans; Achondroplasia; Amino Acid Substitution; Developmental Disabilities; Female; Fetus; Humans; Infant, Newborn; Lysine; Male; Methionine; Mutation, Missense; Pregnancy; Receptor, Fibroblast Growth Factor, Type 3; Ultrasonography, Prenatal

2008
[Gly380Arg and Asn540Lys mutations of fibroblast growth factor receptor 3 in achondroplasia and hypochndroplasia in the Spanish population].
    Medicina clinica, 1999, Mar-06, Volume: 112, Issue:8

    Topics: Achondroplasia; Arginine; Asparagine; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 4; Genetic Counseling; Glycine; Humans; Lysine; Osteochondrodysplasias; Phenotype; Point Mutation; Protein-Tyrosine Kinases; Receptors, Fibroblast Growth Factor; RNA, Transfer, Amino Acid-Specific; Spain

1999