nucleotide sequence gene deletion 20 Humans 18 article 18 human 18 genetics 14 Base Sequence 12 Mutation 12 controlled study 12 exon 12 promoter region 12 Argentina 10 Female 10 Male 10 priority journal 10 unclassified drug 10 Adult 8 Models, Molecular 8 RNA 8 adult 8 child 8 complementary DNA 8 female 8 frameshift mutation 8 gene mutation 8 heterozygote detection 8 male 8 metabolism 8 mutation 8 nonhuman 8