title: Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the beta-hexosaminidase alpha-chain gene in two Portuguese patients.
authors.affiliation: Instituto de Genética Médica Jacinto de Magalhães, Porto, Portugal.
authors.forename: M
authors.initials: M
authors.lastname: Gil Ribeiro
authors.forename: R A
authors.initials: RA
authors.lastname: Pinto
authors.forename: K
authors.initials: K
authors.lastname: Suzuki
authors.forename: M C
authors.initials: MC
authors.lastname: Sá Miranda
mesh_terms: D005091:Exons; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D018807:Polymorphism, Single-Stranded Conformational; D011174:Portugal; D013661:Tay-Sachs Disease / Q000235:genetics*; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics*
chemical_list: D001619:beta-N-Acetylhexosaminidases