Search

Your search keyword '"Kyung, M."' showing total 2 results
Start Over Author "Kyung, M." Region korea
2 results on '"Kyung, M."'

1. Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome.

Author

Kim, Kyung M., Gu-Hwan Kim, Park, Young S., and Han-Wook Yoo

Subjects
*ARTHROGRYPOSIS, *FIBROBLASTS, *GENES, *RESEARCH methodology, *GENETIC mutation, *RESEARCH funding, *RNA, *TISSUE culture, *GENETICS
Abstract

The article discusses a study which examines the arthrogryposis-renal-dysfunction-cholestasis (ARC) syndrome in Korean patients using splice-site mutation, c.403+2T>A. It states that the splice-site mutation was considered the most common and is detected in Korean patients. It also mentions that the ARC syndrome is a rare but fatal cause of neonatal intrahepatic cholestasis without known treatment modalities.

Published
2011
Full Text
View/download PDF

2. Lack of common NOD2 mutations in Korean pediatric patients with inflammatory bowel disease.

Author

Jang, Joo Y., Song, Seung M., Kim, Kyung M., Oh, Seak H., Lee, Yeoun J., and Rhee, Kang W.

Subjects
INFLAMMATORY bowel diseases, ANALYSIS of variance, CHI-squared test, COMPUTER software, CROHN'S disease, FISHER exact test, GENES, GENETIC techniques, GENETIC mutation, ULCERATIVE colitis, DATA analysis, CASE-control method, CHILDREN, GENETICS
Abstract

The article reports on the findings of a study which examined whether the main NOD2 gene mutations are related to Crohn's disease (CD) and ulcerative colitis (UC) in children in Korea. The study revealed 16 patients who had an upper gastrointestinal tract and 29 patients involved with perianal disease. Further, it indicated that none of the common variants of the NOD2 gene was detected in either inflammatory bowel disease patients or healthy children.

Published
2010
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results