Page last updated: 2024-10-20

thymine and Dwarfism, Thanatophoric

thymine has been researched along with Dwarfism, Thanatophoric in 1 studies

Research Excerpts

ExcerptRelevanceReference
"Type I thanatophoric dysplasia (TD) is typically a lethal neonatal dwarfism, but a limited number of cases of type I TD cases survive more than one year, suggesting genetic heterogeneity."1.29Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene. ( Alimsardjono, H; Hirose, S; Matsuo, M; Nakamura, H; Naritomi, K; Onishi, S; Pokharel, RK; Takeshima, Y, 1996)

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
Pokharel, RK1
Alimsardjono, H1
Takeshima, Y1
Nakamura, H1
Naritomi, K1
Hirose, S1
Onishi, S1
Matsuo, M1

Other Studies

1 other study available for thymine and Dwarfism, Thanatophoric

ArticleYear
Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene.
    Biochemical and biophysical research communications, 1996, Oct-03, Volume: 227, Issue:1

    Topics: Cell Line; Child; Child, Preschool; Cytidine; Genes, Lethal; Genetic Heterogeneity; Humans; Japan; M

1996