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Clinical presentation and molecular genetic analysis of a Sudanese family with a novel mutation in the CYP2R1 gene.

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Title: Clinical presentation and molecular genetic analysis of a Sudanese family with a novel mutation in the CYP2R1 gene.
Authors: Abdalla AT; Department of Pediatrics, International University of Africa, Khartoum, Sudan. Electronic address: asmahanco@hotmail.com., Koedam M; Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands., Drop SLS; Department of Pediatrics, Division of Pediatric Endocrinology, Erasmus MC-Sophia Rotterdam, Rotterdam, The Netherlands., Boot AM; Department of Pediatrics, University Medical Center Groningen, University of Groningen, The Netherlands., Abdullah MA; Department of Pediatrics, University of Khartoum, Sudan., van der Eerden BCJ; Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands. Electronic address: b.vandereerden@erasmusmc.nl.
Source: Gene [Gene] 2022 Nov 30; Vol. 844, pp. 146809. Date of Electronic Publication: 2022 Aug 13.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Clinical presentation and molecular genetic analysis of a Sudanese family with a novel mutation in the CYP2R1 gene.
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  Data: <searchLink fieldCode="AU" term="%22Abdalla+AT%22">Abdalla AT</searchLink>; Department of Pediatrics, International University of Africa, Khartoum, Sudan. Electronic address: asmahanco@hotmail.com.<br /><searchLink fieldCode="AU" term="%22Koedam+M%22">Koedam M</searchLink>; Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Drop+SLS%22">Drop SLS</searchLink>; Department of Pediatrics, Division of Pediatric Endocrinology, Erasmus MC-Sophia Rotterdam, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Boot+AM%22">Boot AM</searchLink>; Department of Pediatrics, University Medical Center Groningen, University of Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Abdullah+MA%22">Abdullah MA</searchLink>; Department of Pediatrics, University of Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22van+der+Eerden+BCJ%22">van der Eerden BCJ</searchLink>; Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands. Electronic address: b.vandereerden@erasmusmc.nl.
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  Data: <searchLink fieldCode="JN" term="%227706761%22">Gene</searchLink> [Gene] 2022 Nov 30; Vol. 844, pp. 146809. <i>Date of Electronic Publication: </i>2022 Aug 13.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%2FNorth-Holland%22">Elsevier/North-Holland </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>7706761 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1879-0038 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203781119%22">03781119 </searchLink><i>NLM ISO Abbreviation: </i>Gene <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.gene.2022.146809
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      – Code: eng
        Text: English
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      – TitleFull: Clinical presentation and molecular genetic analysis of a Sudanese family with a novel mutation in the CYP2R1 gene.
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            NameFull: Abdalla AT
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            NameFull: Koedam M
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              Text: 2022 Nov 30
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