Article
Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis.
American journal of human genetics - 1 Sept 1993
Moghrabi N, Clarke D J, Burchell B, Boxer M
Abstract excerpt
Crigler-Najjar syndrome type 1 (CN-1) is a familial disorder characterized by severe unconjugated hyperbilirubinemia and jaundice and leads to kernicterus, neurological damage, and eventual death unless treated with liver transplantation. Previous reports identified mutations in the UGT1 gene com...
Topics
- Alleles
- Base Sequence
- Bilirubin
- Blotting, Southern
- Chromosomes, Human, Pair 2
- Contraindications
- Crigler-Najjar Syndrome
- DNA Mutational Analysis
- DNA Probes
- Female
- Genes, Recessive
- Genetic Carrier Screening
- Genetic Linkage
- Genetic Markers
- Glucuronosyltransferase
- Haplotypes
- Humans
- Immunoblotting