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Article

Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease.

Biochimica et biophysica acta - 1 Jul 1998

Ciotti M, Chen F, Rubaltelli F F, Owens I S

Abstract excerpt

Mutations at the bilirubin UDP-glucuronosyltransferase (transferase) gene in a severely hyperbilirubinemic Crigler-Najjar (CN) type I individual was compared with that in a moderately hyperbilirubinemic CN II individual. The CN-I (CF) patient in this study sustained a TATA box insertional mutation which was paired with a coding defect at the second allele, unlike all coding defects previously seen in CN-I...

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Source

Identifiers

PMID: 9639672
DOI: 10.1016/s0925-4439(98)00030-1

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Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease.PMID 9639672Read ↗

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