Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.
第一作者:
K M,Madsen
第一单位:
Department of Medical Biochemistry and Genetics, University of Copenhagen, Denmark.
作者:
主题词
碱基序列(Base Sequence);丹麦(Denmark);法布里病(Fabry Disease);女(雌)性(Female);人类(Humans);男(雄)性(Male);分子序列数据(Molecular Sequence Data);突变(Mutation);聚合酶链反应(Polymerase Chain Reaction);多态现象, 单链构象(Polymorphism, Single-Stranded Conformational);序列分析, DNA(Sequence Analysis, DNA);α半乳糖苷酶(alpha-Galactosidase)
DOI
10.1002/humu.1380050316
PMID
7599642
发布时间
2006-11-15
- 浏览10

Human mutation
277-8页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文