article 32 Humans 30 mutational analysis 28 controlled study 26 human 26 genetics 24 Female 20 female 20 Male 18 Mutation 18 nonhuman 18 Adolescent 16 Argentina 16 DNA Mutational Analysis 16 gene deletion 16 male 16 priority journal 16 Adult 14 Article 14 adult 14 exon 14 missense mutation 14 nucleotide sequence 14 Child 12 Middle Aged 12 adolescent 12 child 12 enzyme activity 12 gene mutation 12 heterozygosity 12