CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient.
Jeffrey Sung-Shing
JS
Kwok
Simon Loi-Mo
SL
Fung
Grace Chung-Yan
GC
Lui
Eric Lap-Kay
EL
Law
Michael Ho-Ming
MH
Chan
Chi-Bon
CB
Leung
Nelson Leung-Sang
NL
Tang
D000328:Adult; D044466:Asian People / Q000235:genetics; D003541:Cystathionine beta-Synthase / Q000172:deficiency / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006712:Homocystinuria / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D011736:Pyridoxine / Q000627:therapeutic use*; D014803:Vitamin B Complex / Q000627:therapeutic use*
D014803:Vitamin B Complex; D003541:Cystathionine beta-Synthase; D011736:Pyridoxine