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FAH encodes the last enzyme in the tyrosine catabolism pathway. De plus, nous expédions FAH Anticorps (87) et FAH Protéines (13) et beaucoup plus de produits pour cette protéine.
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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Kidneys of adult Fah(-/-) mice, withdrawn from NTBC for 15 days, reveal limited characteristics of apoptosis, and have acquired resistance to a caspase-9 (Montrer CASP9 Kits ELISA)- and caspase-3 (Montrer CASP3 Kits ELISA)-independent form of cell death
Altogether these findings elucidate the molecular basis of HT1 caused by the frequent FAH (Montrer FANCA Kits ELISA) c.1062+5G>A mutation, and demonstrate the compensatory effect of the c.1061C>A change in promoting exon definition, thus unraveling a rare mechanism leading to FAH (Montrer FANCA Kits ELISA) immune-reactive mosaicism.
molecular aspects of the FAH (Montrer FANCA Kits ELISA) 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 (Montrer FANCA Kits ELISA) causing tyrosinemia type I . This novel variant involves the catalytic pocket of the enzyme, but does not result in increased succinylacetone or tyrosine.
FAH (Montrer FANCA Kits ELISA) gene mutation is associated with tyrosinemia type 1.
Four splicing mutations affecting exonic or intronic nucleotides of the FAH (Montrer FANCA Kits ELISA) 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 (Montrer FANCA Kits ELISA) 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.
This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT).
, hypothetical protein