Article
Unique frequency of known mutations in Brazilian MPS I patients.
American journal of medical genetics - 17 Jan 2000
Matte U, Leistner S, Lima L, Schwartz I, Giugliani R
Abstract excerpt
The frequency of 10 known mutations in the IDUA gene-Q70X, A75T, H82P, R89Q, 678-7 g-->a, L218P, A327P, R383H, W402X, and P533R-was estimated in a group of 24 index cases with mucopolysaccharidosis type I. Three affected relatives were also analysed. Six of the 10 mutations screened were present in our patients (Q70X, R89Q, A327P, R383H, W402X, and P533R). These mutations account for 54% of the alleles; 37% of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.