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Isolated sulfite oxidase deficiency: Review of two cases in one family

✍ Scribed by Marianne C Edwards; Jean L Johnson; Barbara Marriage; Tyler N Graf; Katharine E Coyne; K.V Rajagopalan; Ian M MacDonald

Book ID
117329716
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
317 KB
Volume
106
Category
Article
ISSN
0161-6420

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Isolated sulfite oxidase deficiency: ide
Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients
✍ Jean L. Johnson; Katharine E. Coyne; Robert M. Garrett; Marie-Therese Zabot; Cla πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 242 KB

We report twelve novel mutations in patients with isolated sulfite oxidase deficiency. The mutations are in SUOX, the gene that encodes the molybdohemoprotein sulfite oxidase. These include two frameshift mutations, a four-basepair deletion (562del4) and a single-basepair insertion (113insC), both r