Identification of the deletions in the UGT1A1 gene of the patients with Crigler-Najjar syndrome type I from Slovakia

General Physiology and Biophysics

Volumn 26, Issue 4, 2007, Pages 306-310

  Zmetáková, Iveta ^a   Ferak V ^a   Minarik G ^a   Ficek, A ^a   Polakova H ^b   Ferakova E ^a   Kadasi L ^a,b  

^a Physics and Informatics   (Slovakia)

^b INSTITUTE OF MOLECULAR PHYSIOLOGY AND GENETICS   (Slovakia)

Author keywords

Crigler Najjar syndrome type I; Gilbert syndrome; Sequence analysis; UGT1A1 gene

Indexed keywords

BILIRUBIN; GLUCURONOSYLTRANSFERASE 1A1;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CODON; CONSANGUINEOUS MARRIAGE; CRIGLER NAJJAR SYNDROME; CRIGLER NAJJAR SYNDROME TYPE 1; ENHANCER REGION; ETHNIC DIFFERENCE; EXON; FAMILY STUDY; FEMALE; GENE DELETION; GENE INSERTION; HAPLOTYPE MAP; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; MUTATIONAL ANALYSIS; SEQUENCE ANALYSIS; SLOVAKIA; TATA BOX;

ADOLESCENT; ADULT; BILIRUBIN; CHILD; CONSANGUINITY; CRIGLER-NAJJAR SYNDROME; FEMALE; GENE DELETION; GLUCURONOSYLTRANSFERASE; GYPSIES; HUMANS; INFANT, NEWBORN; KERNICTERUS; MALE; SEQUENCE ANALYSIS, DNA; SIBLINGS; SLOVAKIA;

EID: 39349110374     PISSN: 02315882     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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