Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. [electronic resource]
Producer: 20110815Description: 608-15 p. digitalISSN:- 1537-6605
- Amino Acid Sequence
- Bone Diseases, Developmental -- enzymology
- Female
- Golgi Apparatus -- enzymology
- Homozygote
- Humans
- Infant
- Infant, Newborn
- Joint Diseases -- enzymology
- Limb Deformities, Congenital -- pathology
- Male
- Molecular Sequence Data
- Mutation
- Nucleotides -- metabolism
- Phenotype
- Phosphoric Monoester Hydrolases -- genetics
- Protein Structure, Quaternary
- Proteoglycans -- metabolism
- Sulfotransferases -- metabolism
- Young Adult
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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