leucine and Chondrodysplasia Punctata, Rhizomelic

leucine has been researched along with Chondrodysplasia Punctata, Rhizomelic in 1 studies

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (100.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Brites, P; Distel, B; Heijmans, HS; Hettema, E; Hogenhout, E; Motley, A; Tabak, HF; Wanders, RJ; Wijburg, F1

Other Studies

1 other study(ies) available for leucine and Chondrodysplasia Punctata, Rhizomelic

ArticleYear
Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients.
    Journal of inherited metabolic disease, 1998, Volume: 21, Issue:3

    Topics: Chondrodysplasia Punctata, Rhizomelic; Gene Frequency; Humans; Leucine; Mutation; Peroxisomal Targeting Signal 2 Receptor; Receptors, Cytoplasmic and Nuclear

1998