Title : Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing: First South Asian study.

Pub. Date : 2020 Mar

PMID : 31602632






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Homozygosity (41%) for the promoter variant of UGT1A1 (Gilbert syndrome) led to a significantly higher mean bilirubin level (126 54 micromol/l) with a higher frequency of cholelithiasis (30%) (P < 0 001). Bilirubin UDP glucuronosyltransferase family 1 member A1 Homo sapiens