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FAH encodes the last enzyme in the tyrosine catabolism pathway. Additionally we are shipping FAH Antibodies (69) and FAH Kits (6) and many more products for this protein.
Showing 9 out of 12 products:
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Kidneys of adult Fah(-/-) mice, withdrawn from NTBC for 15 days, reveal limited characteristics of apoptosis, and have acquired resistance to a caspase-9 (show CASP9 Proteins)- and caspase-3 (show CASP3 Proteins)-independent form of cell death
Four splicing mutations affecting exonic or intronic nucleotides of the FAH (show FANCA Proteins) 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 Proteins) 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.
identification of an alternative nonsense transcript of the fah (show FANCA Proteins) gene, which despite being subjected to nonsense-mediated mRNA decay, produces a protein in different human tissues
An immunopositive liver nodule was found in a patient with tyrosinemia having a mosaic pattern of FAH (show FANCA Proteins).
This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT).
, hypothetical protein