Cartilage hair hypoplasia and the RMRP gene
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Abstract
Introduction:
Brief overview of Bone Development
Disorders of the Skeleton
Cartilage-Hair-Hypoplasia
The RMRP gene
Specific Aims
Material and Methods
Results:
Clinical
Studies
Mutation Screen of CHH patients
Search for Modifiers
Functional Studies of human RMRP
Mouse Studies
Yeast Studies
Discussion:
Conclusions
Summmary
Appendix