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Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.
Vissers, Lisenka E L M; Lausch, Ekkehart; Unger, Sheila; Campos-Xavier, Ana Belinda; Gilissen, Christian; Rossi, Antonio; Del Rosario, Marisol; Venselaar, Hanka; Knoll, Ute; Nampoothiri, Sheela; Nair, Mohandas; Spranger, Jürgen; Brunner, Han G; Bonafé, Luisa; Veltman, Joris A; Zabel, Bernhard; Superti-Furga, Andrea.
Affiliation
  • Vissers LE; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Am J Hum Genet ; 88(5): 608-15, 2011 May 13.
Article in En | MEDLINE | ID: mdl-21549340
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bone Diseases, Developmental / Phosphoric Monoester Hydrolases / Joint Diseases / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Adult / Female / Humans / Infant / Male / Newborn Language: En Journal: Am J Hum Genet Year: 2011 Document type: Article Affiliation country: Netherlands
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bone Diseases, Developmental / Phosphoric Monoester Hydrolases / Joint Diseases / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Adult / Female / Humans / Infant / Male / Newborn Language: En Journal: Am J Hum Genet Year: 2011 Document type: Article Affiliation country: Netherlands