frameshift mutation Argentina 12 Humans 12 exon 12 gene deletion 12 genetics 12 human 12 article 10 controlled study 10 Female 8 Male 8 female 8 heterozygote detection 8 male 8 missense mutation 8 mutational analysis 8 nucleotide sequence 8 promoter region 8 Adult 6 Frameshift Mutation 6 Middle Aged 6 Mutation 6 adult 6 alanine 6 amino acid substitution 6 gene insertion 6 genotype 6 glycine 6 heterozygosity 6 intron 6