XYLT1 mutations in Desbuquois dysplasia type 2. [electronic resource]
Producer: 20140501Description: 405-14 p. digitalISSN:- 1537-6605
- Adolescent
- Adult
- Bone and Bones -- metabolism
- Child
- Consanguinity
- Craniofacial Abnormalities -- genetics
- DNA, Complementary -- metabolism
- Dwarfism -- genetics
- Exome
- Female
- Fibroblasts -- metabolism
- Genetic Predisposition to Disease
- Homozygote
- Humans
- Joint Instability -- genetics
- Male
- Microsatellite Repeats -- genetics
- Mutation
- Ossification, Heterotopic -- genetics
- Pentosyltransferases -- genetics
- Polydactyly -- genetics
- Proteoglycans -- metabolism
- Sequence Analysis, DNA
- UDP Xylose-Protein Xylosyltransferase
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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