Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.
Tang M.; Facchiano A.; Rachamadugu R.; Calderon F.; Mao R.; Milanesi L.; Marabotti A.; Lai K.;
Hum. Mutat. 33:1107-1115(2012)
Cited for: FUNCTION; PATHWAY; CATALYTIC ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; VARIANTS GALCT ASN-34; GLN-132; LEU-168; THR-170; PRO-227; GLN-259; VAL-291 AND PRO-327; CHARACTERIZATION OF VARIANTS GALCT ASN-34; GLN-132; LEU-135; LEU-168; THR-170; HIS-185; ARG-188; CYS-201; LYS-220; SER-223; PRO-227; GLN-259; ASN-278; PHE-289; VAL-291 AND PRO-327;
Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.
Calderon F.R.; Nelson L.; Dobrowolski P.; Sinitsyna I.; Phansalkar A.; Longo N.; Pasquali M.; Mao R.;
J. Inherit. Metab. Dis. 30:818-818(2007)
Cited for: VARIANTS GALCT HIS-185; CYS-201; LYS-220; SER-223; ASN-278 AND PHE-289;
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