Article
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.
Molecular genetics and metabolism - 1 Jan 2003
Matte Ursula, Yogalingam Gouri, Brooks Doug, Leistner Sandra, Schwartz Ida, Lima Luciane, Norato Denise Y, Brum Jaime M, Beesley Clare, Winchester Bryan, Giugliani Roberto, Hopwood John J
Abstract excerpt
In this study we have investigated a group of 29 Brazilian patients, who had been diagnosed with the lysosomal storage disorder, Mucopolysaccharidosis type I (MPS-I). MPS I is caused by a deficiency in the lysosomal hydrolase, alpha-L-iduronidase. Ninety percent of the MPS I patients in this study were genotyped and revealed 10 recurrent and thirteen novel IDUA gene mutations. Eight of these new mutations and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.