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;
Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: Structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.
Viggiano E.; Marabotti A.; Burlina A.P.; Cazzorla C.; D'Apice M.R.; Giordano L.; Fasan I.; Novelli G.; Facchiano A.; Burlina A.B.;
Cited for: VARIANTS GALCT PRO-33; ASN-34; VAL-83; THR-142; ARG-188; SER-244; ARG-267; VAL-267; ASP-271; ASN-285; ASP-314 AND TRP-333;
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