A novel HEXA mutation [1393G>A (D465N)] in a Mexican Tay-Sachs disease patient.
Alvarez-Rodríguez
A
A
División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
Triggs-Raine
B
B
Barros-Núñez
P
P
Lozano
C M
CM
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*
D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases