김유용 교수 연구실
article|
인용수 17
·2006
Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations
Hye‐Ryun Kang, Eunice Yim, Sun‐Young Oh, Yoon‐Seok Chang, Y. K. Kim, S. H. Cho, K.‐U. Min, Yoo Yong Kim
IF 12Allergy
초록
The two novel exonal mutations (G-->A and A-->G) and one large gene deletion were associated with the clinical phenotypes of HAE. Considering the normal C1INH mRNA levels but below normal protein levels in two families, their phenotypes would be associated with the post-translational defect.
키워드
Hereditary angioedemaExongenomic DNAMolecular biologyC1-inhibitorGeneticsMutationGeneIntronBiology