Human Genetics · 2001 · 64 citations · 22 references
Life SciencesBiochemistryGeneticsEnzymologyHuman GeneticsMedical GeneticsAmino Acid Metabolism DisordersEnzyme DeficienciesGenetic DisordersInborn Errors Of MetabolismMetabolic Pathway DefectsNucleotide Metabolism DisordersAminoacyl-transfer Ribonucleic Acid Synthetase Disease MutationsCongenital Enzyme DefectsDe Novo Nucleotide Synthesis DefectsEnzyme Deficiency DisordersInherited Metabolic Enzyme DisordersMutation SpectrumMutation Spectrum Analysis
22
The DNA sequence of human chromosome 21
Masahira Hattori, Asao Fujiyama, Todd D. Taylor et al. · Nature · 2000 · 1.5K citations · Full text
Alfonso León‐Del‐Río, Daniel Leclerc, Beverly R. Akerman et al. · Proceedings of the National Academy of Sciences · 1995 · 108 citations · Full text
Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21.
Miki Ohira, Naohiko Seki, Takahide Nagase et al. · Genome Research · 1997 · 75 citations · Full text