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Article

Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I.

Journal of medical genetics - 1 Feb 1997

Rosatelli M C, Meloni A, Faa V, Saba L, Crisponi G, Clemente M G, Meloni G, Piga M T, Cao A

Abstract excerpt

This study reports the molecular characterisation of the bilirubin UDP-glucuronosyl-transferase gene (UGT1) in a group of patients of Sardinian descent with Crigler-Najjar syndrome type I and their relatives. Sequence analysis of both UGT1A exon 1 and common exons 2-5 was performed in all patient...

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Identifiers

PMID: 9039987
DOI: 10.1136/jmg.34.2.122
PMCID: PMC1050864

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-9039987-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I.PMID 9039987Read ↗

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