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Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.
Armistead, Joy; Khatkar, Sunita; Meyer, Britta; Mark, Brian L; Patel, Nehal; Coghlan, Gail; Lamont, Ryan E; Liu, Shuangbo; Wiechert, Jill; Cattini, Peter A; Koetter, Peter; Wrogemann, Klaus; Greenberg, Cheryl R; Entian, Karl-Dieter; Zelinski, Teresa; Triggs-Raine, Barbara.
Affiliation
  • Armistead J; Department of Biochemistry and Medical Genetics, University of Manitoba, MB, Canada.
Am J Hum Genet ; 84(6): 728-39, 2009 Jun.
Article in En | MEDLINE | ID: mdl-19463982
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Psychomotor Disorders / Ribosomes / Chromosomes, Human, Pair 12 / DNA-Directed RNA Polymerases / Fetal Growth Retardation / Mutation Type of study: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Animals / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2009 Document type: Article Affiliation country: Canada Country of publication: United States
Fulltext
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Print
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Psychomotor Disorders / Ribosomes / Chromosomes, Human, Pair 12 / DNA-Directed RNA Polymerases / Fetal Growth Retardation / Mutation Type of study: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Animals / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2009 Document type: Article Affiliation country: Canada Country of publication: United States