Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus
UGT1A1基因编码区突变与吉尔伯特型启动子异常的相互作用会导致中度非结合型高胆红素血症,并可能导致新生儿核黄疸。
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg.38.4.244
Kadakol, A; Sappal, B S; Ghosh, S S; Lowenheim, M; Chowdhury, A; Chowdhury, S; Santra, A; Arias, I M; Chowdhury, J R; Chowdhury, N R