The Duarte allele (D) is a missense mutation (N314D) that produces a characteristic isoform and partial impairment of galactose-1-phosphate uridyltransferase (GALT) in human erythrocytes, fibroblasts, and transformed lymphoblasts. The position of this amino acid is distant, however, from presumptive
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Studies of DNA in galactose-1-phosphate uridyltransferase deficiency and the Duarte variant in Germany
โ Scribed by T. Podskarbi; J. Reichardt; Y. S. Shin
- Publisher
- Springer
- Year
- 1994
- Tongue
- English
- Weight
- 129 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0141-8955
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