Article
Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis.
Clinical genetics - 1 May 2012
Wang X, Zhang W, Shi H, Qiu Z, Meng Y, Yao F, Wei M
Abstract excerpt
Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease that results from the deficiency of α-l-iduronidase and is transmitted in an autosomally recessive manner. This report describes the first systematic screening for mutations in Chinese MPS I patients from mainland China, wherein we have summarized the phenotype/genotype correlation of the individuals in Chinese MPS I patients. Mutational analyses were...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.