Article
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.
Human mutation - 1 Jan 1998
Loudianos G, Dessì V, Lovicu M, Angius A, Nurchi A, Sturniolo G C, Marcellini M, Zancan L, Bragetti P, Akar N, Yagci R, Vegnente A, Cao A, Pirastu M
Abstract excerpt
This study presents the update results of an ongoing project on the delineation of the spectrum of mutations at the Wilson disease (WD) gene in WD patients of Mediterranean origin. In studying 59 patients, of whom were 26 Continental Italians, 22 Sardinians, 9 Turkish, and 2 Albanians, we have found 31 novel and three known mutations. Of the novel mutations, 3 are deletions, two nonsense, 2 splice or consensus...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.