This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The purpose of this study is to use the recently cloned gene for alpha-galactosidase A to study Fabry disease at the molecular level. Efforts will be directed to identify the different disease gene mutations and to use molecular biologic techniques to produce large amounts of the enzyme for evaluation of enzyme replacement therapy.
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