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Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP

2011/05/01 by Lisenka E.L.M. Vissers, Lisenka E.L.M. Vissers, Ekkehart Lausch +21 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Alkaline phosphatase #Biochemical and Molecular Research #Biochemistry #Biology #Brachydactyly #Connective tissue disorders research #Endocrinology #Enzyme #Exome sequencing #Gene #Genetics #Hypophosphatasia #Missense mutation #Mutation #Short stature #Ubiquitin and proteasome pathways

paper · pdf · doi:10.1016/j.ajhg.2011.04.002

crossref issued 2011/05/01 · crossref published 2011/05/01 · crossref published-print 2011/05/01 · openalex publication_date 2011/05/01 · crossref created 2011/05/09 · crossref deposited 2018/12/02 · openalex created_date 2025/10/10 · crossref indexed 2026/06/28 · openalex updated_date 2026/07/28

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