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

Rosatelli, Maria Cristina and Meloni, Alessandra and Faà, Valeria and Saba, Luca and Crisponi, Guido and Clemente, Maria Grazia and Meloni, Gianfranco and Piga, M. T. and Cao, Antonio (1997) Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I. Journal of Medical Genetics, Vol. 34 (2), p. 122-125. ISSN 0022-2593. eISSN 1468-6244. Article.

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DOI: 10.1136/jmg.34.2.122

Abstract

This study reports the molecular characterisation of the bilirubin UDPglucuronosyl- 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 patients, leading to the detection of AF170 and a novel mutation (470insT), both residing in UGT1A exon 1. All but two heterozygotes for the AF170 mutation showed normal serum bilirubin levels. These two subjects were also heterozygous for the sequence variation A(TA)7TAA in the promoter region of the UGT1A gene.

Item Type:Article
ID Code:11254
Status:Published
Refereed:Yes
Uncontrolled Keywords:CN1, mutation analysis, Gilbert syndrome
Subjects:Area 06 - Scienze mediche > MED/38 Pediatria generale e specialistica
Divisions:001 Università di Sassari > 01 Dipartimenti > Neuroscienze, scienze materno infantili
Publisher:BMJ Publishing Group
ISSN:0022-2593
eISSN:1468-6244
Deposited On:18 Jan 2016 09:11

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