Article
Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation.
Human genetics - 1 Jan 2000
Ida H, Rennert O M, Iwasawa K, Kobayashi M, Eto Y
Abstract excerpt
In patients originally genotyped as homoallelic for the Gaucher disease (GD) L444P (1448C) mutation, we sought to confirm previously reported phenotypic differences between Caucasians and Japanese, to determine the prevalence and phenotypic impact of recombinant alleles, and to explore the phenotypic influence of genetic background. We therefore analyzed data from longer-term clinical follow-up, more...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.