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. Author manuscript; available in PMC: 2014 Aug 6.
Published in final edited form as: J Pediatr. 2014 Mar 17;165(1):36–41.e1. doi: 10.1016/j.jpeds.2014.01.060

Table III.

Differences in serum bilirubin concentration depending on the type of mutations in infants with BMJ

Genotype Mean serum bilirubin concentration, mg/dL


Allele 1 Allele 2 No. (total = 62) At diagnosis 4 months later
UGT1A1*6 UGT1A1*6 33 21.2 ± 3.8 0.81 ± 0.31
UGT1A1*6 UGT1A1*60 8 16.3 ± 2.9 0.85 ± 0.42
UGT1A1*6 UGT1A1*1 9 14.9 ± 4.5 0.82 ± 0.73
UGT1A1*60 UGT1A1*60 1 11.5 0.58
UGT1A1*7 UGT1A1*7 2 15.1 3.35
Other Other* 6 19.3 ± 7.8 0.83 ± 0.34
UGT1A1*1 UGT1A1*1 3 17.6 ± 2.9 0.61 ± 0.22
*

Other/other genotype group includes a rare combination of UGT1A1 mutations; compound heterozygous for UGT1A1*6 and p.[G71R:Y486D] (1 case), homozygous UGT1A1*63 (1 case), compound heterozygous for UGT1A1*6 and UGT1A1*7 (2 cases), and heterozygous for UGT1A1*60 (2 cases).