Mutation screening for tyrosinaemia type 1

Journal of Inherited Metabolic Disease

Volumn 25, Issue 6, 2002, Pages 523-524

  Heath, S K ^a   Gray, R G F ^a   McKierman, P ^a   Au, K M ^b   Walker, E ^a   Green, A ^a  

^a BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^b PRINCESS MARGARET HOSPITAL   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FUMARYLACETOACETASE; GENOMIC DNA;

ALLELE; ANIMAL CELL; CHROMOSOME 15Q; DNA EXTRACTION; DNA ISOLATION; EXON; FIBROBLAST CULTURE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HETEROZYGOSITY; HETEROZYGOTE DETECTION; MOUSE; NONHUMAN; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; RAT; RELIABILITY; SHORT SURVEY; SINGLE STRAND CONFORMATION POLYMORPHISM; STRUCTURE ACTIVITY RELATION; TYROSINEMIA; X RAY CRYSTALLOGRAPHY;

CHROMOSOME MAPPING; CONSANGUINITY; DNA; EXONS; GENETIC SCREENING; HUMANS; HYDROLASES; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TYROSINEMIAS;

EID: 0036822520     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1021275923668     Document Type: Short Survey

References (3)

1. Gray RGF, Harper A, Davies P, McKiernan P (2000) Ethnic diversity and mutations in the fumarylacetoacetase gene. J Inherit Metab Dis 23 (Suppl 1) 70.
2. Human Gene Mutation Database: http://archive.uwcm.ac.uk/uwcm/mg/search/119901.html
3. Timm DE, Mueller HA, Bhanumoorthy P, Harp JM, Bunick GJ (1999) Crystal structure and mechanism of a carbon-carbon bond hydrolase. Structure 7: 1023-1033.