Galactokinase is an essential enzyme in the metabolism of galactose. Patients with deficiencies in galactokinase exhibit early-onset cataracts. We examined the sequence of the human galactokinase gene (GK1) from 13 patients exhibiting galactokinase deficiency and identified 12 novel mutations. One o
Novel mutations in the GALK1 gene in patients with galactokinase deficiency
β Scribed by Michael Hunter; Dora Angelicheva; Harvey L. Levy; Sigfried M. Pueschel; Luba Kalaydjieva
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 29 KB
- Volume
- 17
- Category
- Article
- ISSN
- 1059-7794
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