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New forms of hereditary tyrosinemia type II in mink: Hepatic tyrosine aminotransferase defect

✍ Scribed by KNUD CHRISTENSEN; PER HENRIKSEN; HILMER SØRENSEN


Book ID
114809152
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
617 KB
Volume
104
Category
Article
ISSN
0018-0661

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The human tyrosine aminotransferase gene
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Deficiency in hepatic tyrosine aminotransferase (TAT) causes tyrosinemia type II, an autosomal recessively inherited disorder. Using a TAT cosmid clone, we have identified an MspI restriction fragment length polymorphism (RFLP) 5' to the TAT gene, with allele frequencies of 0.63 and 0.37. Analysis o