|
|||||
|
|
Two novel mutations in glucocerebrosidase,C23W and IVS7 − 1 G > A,identified in Type 1 Gaucher patients heterozygous for N370S |
|
| Authors: | Alexandria Jack Dominick Amato Geoffrey Morris Francis YM Choy |
| Institution: | 1. Department of Biology, Biomedical Research Centre, University of Victoria Victoria, British Columbia, Canada;2. Mark Freedman and Judy Jacobs Program for Gaucher Disease, Mount Sinai Hospital and University of Toronto, Toronto, Ontario, Canada |
| Abstract: | |
| Keywords: | OMIM Online Mendelian Inheritance in Man entry number GBA glucocerebrosidase EC Enzyme Commission number RFLP restriction fragment length polymorphism ACE angiotensin-converting enzyme PCR polymerase chain reaction MRI magnetic resonance imaging DXA dual-energy X-ray absorptiometry bp base pairs GauSSI-I Gaucher Disease Severity Score Index-Type I |
| 本文献已被 ScienceDirect 等数据库收录！ | |