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FAH encodes the last enzyme in the tyrosine catabolism pathway. Additionally we are shipping FAH Proteins (13) and FAH Kits (9) and many more products for this protein.
Showing 10 out of 86 products:
Cow (Bovine) Polyclonal FAH Primary Antibody for IHC, WB - ABIN2776935
Bliksrud, Brodtkorb, Andresen, van den Berg, Kvittingen: Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect. in Journal of molecular medicine (Berlin, Germany) 2005
Show all 3 Pubmed References
The Caenorhabditis elegans K10C2.4 gene encodes a member of the fumarylacetoacetate hydrolase family: a Caenorhabditis elegans model of type I tyrosinemia
Naked plasmid DNA transfection offers a promising alternative treatment for hereditary tyrosinemia type 1 caused by mutation of the fah gene.
Kidneys of adult Fah(-/-) mice, withdrawn from NTBC for 15 days, reveal limited characteristics of apoptosis, and have acquired resistance to a caspase-9 (show CASP9 Antibodies)- and caspase-3 (show CASP3 Antibodies)-independent form of cell death
molecular aspects of the FAH (show FANCA Antibodies) gene and its corresponding protein and a complete listing of all the mutations identified to date; highlight of the importance of splicing mutations in hereditary tyrosinemia type 1
Results from whole exome sequencing revealed a novel homozygous missense variant in FAH (show FANCA Antibodies) causing tyrosinemia type I . This novel variant involves the catalytic pocket of the enzyme, but does not result in increased succinylacetone or tyrosine.
FAH (show FANCA Antibodies) gene mutation is associated with tyrosinemia type 1.
Four splicing mutations affecting exonic or intronic nucleotides of the FAH (show FANCA Antibodies) gene were identified in two hereditary tyrosinemia type I patients.
Two siblings have been described with tyrosinemia type 1 complicated by reversible hypertrophic cardiomyopathy in infancy due to a FAH (show FANCA Antibodies) homozygous mutation.
Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient.
Identification of novel mutations in the fumarylacetoacetase gene in Hereditary tyrosinaemia type I.
We detected 11 novel and 6 previously described pathogenic mutations in the fumarylacetoacetase gene in a cohort of 43 patients originating from the Middle East with the acute form hereditary tyrosinemia type I
A missense mutation in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.
Data describe the metabolism of fumarylacetoacetate hydrolase mRNA harboring a nonsense mutation, W262X, in lymphoblastoid cell lines derived from hereditary tyrosinemia type I patients.
This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT).
, hypothetical protein