A homozygous mutation in a Chinese man with Crigler-Najjar syndrome type II and a family genetic analysis

Journal of Digestive Diseases

Volumn 9, Issue 2, 2008, Pages 89-94

  Wu, Jian Xin ^a   Cheng, Guang Yu ^a   Huang, Jian ^b  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b CHINESE NATIONAL HUMAN GENOME CENTER AT SHANGHAI   (China)

Author keywords

Crigler Najjar syndromes; Genetic analysis; Hereditary unconjugated hyperbilirubinemia; Missense mutation; Uridine diphosphate glucuronosyltransferase (UGT)

Indexed keywords

ASPARTIC ACID; BILIRUBIN; DNA; GLUCURONOSYLTRANSFERASE 1A1; PHENOBARBITAL; TYROSINE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD SAMPLING; CALORIC RESTRICTION; CASE REPORT; CHINESE; CRIGLER NAJJAR SYNDROME; DNA DETERMINATION; DNA RESPONSIVE ELEMENT; DNA SEQUENCE; ECHOGRAPHY; ENZYME INDUCTION; EXON; FAMILY STUDY; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LIVER BIOPSY; LIVER FUNCTION TEST; MALE; MISSENSE MUTATION; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION;

ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; CRIGLER-NAJJAR SYNDROME; EXONS; FEMALE; GLUCURONOSYLTRANSFERASE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE;

EID: 42449095530     PISSN: 17512972     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1751-2980.2008.00328.x     Document Type: Article

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