Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. [electronic resource]
Producer: 20110919Description: 15-27 p. digitalISSN:- 1537-6605
- Adolescent
- Amino Acid Sequence
- Aortic Valve -- pathology
- Case-Control Studies
- Child
- Chondroitin Sulfates -- analysis
- Chromosomes, Human, Pair 11 -- genetics
- Consanguinity
- Dermatan Sulfate -- analysis
- Electrophoresis, Polyacrylamide Gel
- Fibroblasts -- metabolism
- Fluorescent Antibody Technique
- Glucuronosyltransferase -- genetics
- Heart Defects, Congenital -- pathology
- Heparan Sulfate Proteoglycans -- analysis
- Humans
- Immunoblotting
- Male
- Mitral Valve -- pathology
- Models, Molecular
- Molecular Sequence Data
- Pedigree
- Proteoglycans -- biosynthesis
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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