Article
Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.
Human mutation - 1 Jul 2002
Johnson Jean L, Coyne Katharine E, Garrett Robert M, Zabot Marie-Therese, Dorche Claude, Kisker Caroline, Rajagopalan K V
Abstract excerpt
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 resulting in premature termination. Nonsense mutations predicting Y343X and Q364X substitutions were identified in a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.