Molecular analysis of the alpha-galactosidase A gene permitted the identification of an as yet undescribed point mutation at position 10182 of exon 5 which causes an Asp to Asn substitution at codon 231 .
molecular analysis of the alpha-galactosidase a gene permitted the identification of an as yet undescribed point mutation at position 10182 of exon 5 which causes an asp to asn substitution at codon 231 .
O O O O B-protein_molecule O O O O O O O O O O O O O B-DNA_domain_or_region I-DNA_domain_or_region O B-DNA_domain_or_region I-DNA_domain_or_region O O O B-amino_acid_monomer O B-amino_acid_monomer O O B-DNA_domain_or_region I-DNA_domain_or_region O