Mutation of UGT1A1 gene in a case of Crigler-Najjar syndrome type II

被引：5
作者：
Ishihara, T
Sato, H
Fukui, S
Kagawa, K
Kaito, M
Gabazza, EC
Adachi, Y
机构：
[1] Mie Univ, Sch Med, Dept Internal Med 3, Tsu, Mie 5148507, Japan
[2] Shiga Univ Med Sci, Dept Biol, Otsu, Shiga 52021, Japan
[3] Fukuchiyama Cent Hosp, Dept Internal Med, Fukuchiyama, Japan
来源：
AMERICAN JOURNAL OF GASTROENTEROLOGY | 1999年 / 94卷 / 06期
关键词：
D O I：
10.1111/j.1572-0241.1999.1711a.x
中图分类号：
R57 [消化系及腹部疾病];
学科分类号：
摘要：
引用
收藏
页码：1711 / 1712
页数：2
相关论文
共 50 条
  • [21] CRIGLER-NAJJAR SYNDROME TYPE II CAUSED BY HOMOZYGOUS DOUBLE MUTATION [T1456G, G211A] OF UGT1A1 GENE IN A TAIWANESE SIBLING
    Tseng, Y. -Y.
    Yang, Y. -J.
    Huang, S. -C.
    [J]. PEDIATRIC RESEARCH, 2010, 68 : 395 - 395
  • [22] Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family
    Maruo, Yoshihiro
    Behnam, Mandiyeh
    Ikushiro, Shinichi
    Nakahara, Sayuri
    Nouri, Narges
    Salehi, Mansour
    [J]. JOURNAL OF GASTROINTESTINAL AND LIVER DISEASES, 2015, 24 (04) : 523 - 526
  • [23] A novel stop codon mutation in exon 1 (558C>A) of the UGT1A1 gene in a Thai neonate with Crigler-Najjar syndrome type I
    Wanlapakorn, N.
    Nilyanimit, P.
    Vorawandthanachai, T.
    Deesudjit, T.
    Dumrongpisutikul, N.
    Poovorawan, Y.
    [J]. GENETICS AND MOLECULAR RESEARCH, 2015, 14 (01) : 419 - 425
  • [24] Novel combined UGT1A1 mutations in Crigler Najjar Syndrome type I
    Abdellaoui, Nawel
    Abdelmoula, Balkiss
    Abdelhedi, Rania
    Kharrat, Najla
    Tabebi, Mouna
    Rebai, Ahmed
    Abdelmoula, Nouha Bouayed
    [J]. JOURNAL OF CLINICAL LABORATORY ANALYSIS, 2022, 36 (06)
  • [25] Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5′-diphosphate-glucuronosyltransferase (UGT1A1) gene
    Iolascon, A
    Meloni, A
    Coppola, B
    Rosatelli, MC
    [J]. JOURNAL OF MEDICAL GENETICS, 2000, 37 (09) : 712 - 713
  • [26] 781 Crigler-Najjar Syndrome Type Ii Caused by Homozygous Double Mutation [T1456G, G211A] of Ugt1A1 Gene in a Taiwanese Sibling
    Y -Y Tseng
    Y -J Yang
    S -C Huang
    [J]. Pediatric Research, 2010, 68 : 395 - 395
  • [27] Pre-clinical assessment of AAV-mediated gene therapy for Crigler-Najjar syndrome (UGT1A1 deficiency)
    Collaud, F.
    Ronzitti, G.
    Lacoste, F.
    Charles, S.
    Leborgne, C.
    Van Dijk, R.
    Vignaud, A.
    Martin, S.
    Lebec, C.
    Mavilio, F.
    Bosma, P.
    Mingozzi, F.
    [J]. HUMAN GENE THERAPY, 2014, 25 (11) : A59 - A60
  • [28] A case report of a novel 22 bp duplication within exon 1 of the UGT1A1 in a Sudanese infant with Crigler-Najjar syndrome type I
    Sailaja Valmiki
    Kiran Kumar Mandapati
    Leela Krishna Vamsee Miriyala
    Chayarani Chandrashekhar Kelgeri
    Mohamed Rela
    Naresh P. Shanmugam
    Durga Rao Vegulada
    [J]. BMC Gastroenterology, 20
  • [29] A case report of a novel 22 bp duplication within exon 1 of the UGT1A1 in a Sudanese infant with Crigler-Najjar syndrome type I
    Valmiki, Sailaja
    Mandapati, Kiran Kumar
    Miriyala, Leela Krishna Vamsee
    Kelgeri, Chayarani Chandrashekhar
    Rela, Mohamed
    Shanmugam, Naresh P.
    Vegulada, Durga Rao
    [J]. BMC GASTROENTEROLOGY, 2020, 20 (01)
  • [30] Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I
    Maruo, Yoshihiro
    Verma, Ishwar Chander
    Matsui, Katsuyuki
    Takahashi, Hiroko
    Mimura, Yu
    Ota, Yoriko
    Mori, Asami
    Saxena, Renu
    Sato, Hiroshi
    Takeuchi, Yoshihiro
    [J]. JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 2008, 46 (03) : 308 - 311
12345