11 results on '"Tsai, Chang-Hai"'
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2. A 651-665delinsTT mutation in EXT1 causes hereditary multiple exostoses
3. A new polymorphism (c28C>A) of EXT2 gene identified in a Taiwan Chinese family
4. A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #173 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/mpr173.pdf Acknowledgments: We thank Yu-Huu Liang for preparing this manuscript. The work is funded by grants from China Medical College Hospital (DMR 89-006).
5. An R223P mutation in EXT2 gene causes hereditary multiple exostoses
6. A novel polymorphism (c288C>T) of the NPHS2 gene identified in a Taiwan Chinese family
7. A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease)
8. Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan
9. Mutation analysis of Wilson disease in Taiwan and description of six new mutations
10. Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with apert syndrome
11. A novel polymorphism (c288C>T) of the NPHS2 gene identified in a Taiwan Chinese family.
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