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HGD encodes the enzyme homogentisate 1,2 dioxygenase. Zusätzlich bieten wir Ihnen Homogentisate 1,2-Dioxygenase Antikörper (64) und Homogentisate 1,2-Dioxygenase Kits (6) und viele weitere Produktgruppen zu diesem Protein an.
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Twelve novel HGD gene variants have been identified in 99 alkaptonuria patients affecting the bones.
A novel alkaptonuria mutation, c.87 + 1G > A, shows a significant founder effect and high prevalence in a nomadic Indian population.
study described two novel HGD mutations in a Chinese alkaptonuria family, the splicing mutation of IVS7 1G>C, a donor splice site of exon 7, and a missense mutation of F329C in exon 12
Report mutations of the HGD gene in Jordanian alkaptonuria patients.
The observed increase of HGD expression in Alkaptonuria cells is probably due to a compensatory mechanism to overcome the almost null catalytic activity of the deficient enzyme
An update on molecular genetics of Alkaptonuria (AKU).(review)
Familiar ochronotic arthropathy is caused by a gene mutation of the homogentisic acid 1,2-dioxygenase (HGD) gene traced three hundred years in a Hungarian family.
A comprehensive mutation analysis of 93 patients enrolled in this study, as well as an extensive update of all previously published HGD mutations associated with alkaptonuria, is reported.
Turkish mutation shares an homogentisate 1,2-dioxygenase haplotype with the mutation found in Finland, Slovakia and India, suggesting that R58fs is an old alkaptonuria mutation that probably originated in central Asia
Four different mutations of the HGD gene were found in alkaptonuria and ochronotic arthropathy diagnoses.
The effects of polymorphisims in the restriction sites for HGD-BstXI and HGD-HaeIII on meat quality and body composition of Chinese red cattle are reported.
This is the first incidence where polymorphisms of a bovine HGD gene have demonstrated a correlation with meat traits in Chinese red cattle.
This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.
, homogentisate 1,2-dioxygenase
, homogentisic acid oxidase
, Homogentisate 1,2-dioxygenase
, homogentisate 1,2-dioxygenase (homogentisate oxidase)
, Homogentisate 1,2-dioxygenase-like
, homogentisate 12-dioxygenase
, homogentisate oxygenase
, homogentisate oxidase