title: A novel HEXA mutation [1393G>A (D465N)] in a Mexican Tay-Sachs disease patient.
authors.affiliation: División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
authors.forename: A
authors.initials: A
authors.lastname: Alvarez-Rodríguez
authors.forename: B
authors.initials: B
authors.lastname: Triggs-Raine
authors.forename: P
authors.initials: P
authors.lastname: Barros-Núñez
authors.forename: C M
authors.initials: CM
authors.lastname: Lozano
mesh_terms: D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D054818:Hexosaminidase A; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008800:Mexico; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D013661:Tay-Sachs Disease / Q000201:enzymology / Q000235:genetics*; D001619:beta-N-Acetylhexosaminidases / Q000172:deficiency / Q000235:genetics*
chemical_list: D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases