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RFT1-CDG in adult siblings with novel mutations.
Ondruskova, Nina; Vesela, Katerina; Hansikova, Hana; Magner, Martin; Zeman, Jiri; Honzik, Tomas.
Affiliation
  • Ondruskova N; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.
Mol Genet Metab ; 107(4): 760-2, 2012 Dec.
Article in En | MEDLINE | ID: mdl-23111317
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Membrane Glycoproteins / Congenital Disorders of Glycosylation / Siblings / Mutation Type of study: Diagnostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2012 Document type: Article Affiliation country: Czech Republic
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Membrane Glycoproteins / Congenital Disorders of Glycosylation / Siblings / Mutation Type of study: Diagnostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2012 Document type: Article Affiliation country: Czech Republic