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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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Bibliographic Details
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
Description
ISSN:1879-0038
DOI:10.1016/j.gene.2022.146809