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Crigler-Najjar syndrome type II caused by a homozygous triple mutation [T-3279G, A(TA)7TAA, and H39D] of UGT1A1.

Journal of pediatric gastroenterology and nutrition - 1 Feb 2006

Maruo Yoshihiro, Topaloglu Ali K, Takahashi Hiroko, Mori Asami, Iwai Masaru, Duzovali Oznur, Yamamoto Kazuo, Matui Katsuyuki, Sato Hiroshi, Takeuchi Yoshihiro

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PMID: 16456422
DOI: 10.1097/01.mpg.0000184922.09389.0a

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Related research

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Crigler-Najjar syndrome type II caused by a homozygous triple mutation [T-3279G, A(TA)7TAA, and H39D] of UGT1A1.PMID 16456422Read ↗

Mutation of UGT1A1 gene in a case of Crigler-Najjar syndrome type II.Semantic proximity Read ↗

Update on a previously reported missense mutation: The c.1160 C>A mutation in the UGT1A1 gene result in Crigler-Najjar syndrome type 1.Semantic proximity Read ↗

Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2.Semantic proximity Read ↗

Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene.Semantic proximity Read ↗

Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database.Semantic proximity Read ↗

UGT1A1 gene mutation due to Crigler-Najjar syndrome in Iranian patients: identification of a novel mutation.Semantic proximity Read ↗

UGT1A1 genotype in a white boy with Crigler-Najjar syndrome type 2.Semantic proximity Read ↗

[Analysis of mutation site characteristics of Gilbert syndrome and Crigler--Najjar syndrome in relation to uridine diphosphate glucuronosyltransferase A1 gene].Semantic proximity Read ↗

Identification of three novel variants in the UGT1A1 gene as a cause of Crigler-Najjar syndrome type 1Semantic proximity Read ↗

An analysis of UGT1A1 genotype-phenotype correlation in Chinese patients with Gilbert and Crigler-Najjar II syndromeSemantic proximity Read ↗

Analysis of UGT1A1 genotype-phenotype correlation in Chinese patients with gilbert and crigler-Najjar II syndrome.Semantic proximity Read ↗

Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic analysis.Semantic proximity Read ↗

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