Article
A novel RNA splicing mutation in Japanese patients with Wilson disease.
Biochemical and biophysical research communications - 5 Dec 1995
Shimizu N, Kawase C, Nakazono H, Hemmi H, Shimatake H, Aoki T
Abstract excerpt
Deletion/insertion mutation of Wilson disease (WD) gene in 16 Japanese patients with Wilson disease was studied. A truncated size in a region of exon 4 to 6 was found by reverse transcription-polymerase chain reaction (RT-PCR) covering entire 21 exons except exon 1 for liver cDNA of one patient with a late onset neurologic type. Sequence analysis of the cDNA revealed that this truncation was occurred by skipping...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.