Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the beta-hexosaminidase alpha-chain gene in two Portuguese patients.
Gil Ribeiro
M
M
Instituto de Genética Médica Jacinto de Magalhães, Porto, Portugal.
Pinto
R A
RA
Suzuki
K
K
Sá Miranda
M C
MC
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*
D001619:beta-N-Acetylhexosaminidases