Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database.
about
Inherited disorders of bilirubin clearanceSpectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type IITwo unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene.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.Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia.X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3.Three-dimensional polyacrylamide gel-based DNA microarray method effectively identifies UDP-glucuronosyltransferase 1A1 gene polymorphisms for the correct diagnosis of Gilbert's syndromeGene replacement therapy for genetic hepatocellular jaundice.Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and Gilbert syndrome. Usefulness of UGT1A1 mutational screening.UGT1A1 gene mutations and neonatal hyperbilirubinemia in Guangxi Heiyi Zhuang and Han populations.Promoterless gene targeting without nucleases rescues lethality of a Crigler-Najjar syndrome mouse model.UGT1A1 gene linkage analysis: application of polymorphic markers rs4148326/rs4124874 in the Iranian population.Unconjugated hyperbilirubinemia: a blessing in disguise?UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II.Germline genetic variants with implications for disease risk and therapeutic outcomes.Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome.Clinical UGT1A1 Genetic Analysis in Pediatric Patients: Experience of a Reference Laboratory.Role of co-inherited Gilbert syndrome on hyperbilirubinemia in Indian beta thalassemia patients.Uridine 5'-diphospho-glucronosyltrasferase: Its role in pharmacogenomics and human disease.
P2860
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P2860
Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh
2013年學術文章
@zh-hant
name
Gilbert and Crigler Najjar syn ...... GT1A1) gene mutation database.
@en
Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1
@nl
type
label
Gilbert and Crigler Najjar syn ...... GT1A1) gene mutation database.
@en
Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1
@nl
prefLabel
Gilbert and Crigler Najjar syn ...... GT1A1) gene mutation database.
@en
Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1
@nl
P1476
Gilbert and Crigler Najjar syn ...... UGT1A1) gene mutation database
@en
P2093
Cecilia Zuppi
Giulia Canu
P304
P356
10.1016/J.BCMD.2013.01.003
P577
2013-02-09T00:00:00Z