Page last updated: 2024-08-21

sapropterin and Chromosome Deletion

sapropterin has been researched along with Chromosome Deletion in 1 studies

Research

Studies (1)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	1 (100.00)	29.6817
2010's	0 (0.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Gabriel, H; Hoffmann, GF; Opladen, T; Storch, A; von Mering, M	1

Other Studies

1 other study(ies) available for sapropterin and Chromosome Deletion

Article	Year
A novel mutation (c.64_65delGGinsAACC [p.G21fsX66]) in the GTP cyclohydrolase 1 gene that causes Segawa disease. Journal of neurology, neurosurgery, and psychiatry, 2008, Volume: 79, Issue:2 Topics: Adult; Base Composition; Biopterins; Chromosome Aberrations; Chromosome Deletion; DNA Mutational Analysis; Dopamine; Dystonic Disorders; Exons; Female; Fibroblasts; Frameshift Mutation; Genes, Dominant; GTP Cyclohydrolase; Guanine Nucleotides; Heterozygote; Humans; Mutagenesis, Insertional; Neopterin; Sequence Analysis, DNA; Sequence Analysis, Protein; Serotonin	2008

Article

Year

A novel mutation (c.64_65delGGinsAACC [p.G21fsX66]) in the GTP cyclohydrolase 1 gene that causes Segawa disease.

Journal of neurology, neurosurgery, and psychiatry, 2008, Volume: 79, Issue:2

Topics: Adult; Base Composition; Biopterins; Chromosome Aberrations; Chromosome Deletion; DNA Mutational Analysis; Dopamine; Dystonic Disorders; Exons; Female; Fibroblasts; Frameshift Mutation; Genes, Dominant; GTP Cyclohydrolase; Guanine Nucleotides; Heterozygote; Humans; Mutagenesis, Insertional; Neopterin; Sequence Analysis, DNA; Sequence Analysis, Protein; Serotonin

2008