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Adult phenotype and further phenotypic variability in SRD5A3-CDG.
Kara, Bülent; Ayhan, Özgecan; Gökçay, Gülden; Basbogaoglu, Nurdan; Tolun, Aslihan.
Affiliation
  • Tolun A; Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey. tolun@boun.edu.tr.
BMC Med Genet ; 15: 10, 2014 Jan 16.
Article in En | MEDLINE | ID: mdl-24433453
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Congenital Disorders of Glycosylation / Membrane Proteins Limits: Adult / Female / Humans / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2014 Document type: Article Country of publication: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Congenital Disorders of Glycosylation / Membrane Proteins Limits: Adult / Female / Humans / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2014 Document type: Article Country of publication: United kingdom