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Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.
Alves, Maria M; Halim, Danny; Maroofian, Reza; de Graaf, Bianca M; Rooman, Raoul; van der Werf, Christine S; Van de Vijver, Els; Mehrjardi, Mohammad Yv; Aflatoonian, Majid; Chioza, Barry A; Baple, Emma L; Dehghani, Mohammadreza; Crosby, Andrew H; Hofstra, Robert Mw.
Affiliation
  • Alves MM; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • Halim D; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • Maroofian R; University of Exeter Medical School, RILD Wellcome Wofston Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
  • de Graaf BM; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • Rooman R; Department of Pediatrics, University Hospital of Antwerp, Antwerp, Belgium.
  • van der Werf CS; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
  • Van de Vijver E; Department of Pediatrics, University Hospital of Antwerp, Antwerp, Belgium.
  • Mehrjardi MY; Biomedical and Clinical Genetic Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Aflatoonian M; Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Chioza BA; Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Baple EL; University of Exeter Medical School, RILD Wellcome Wofston Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
  • Dehghani M; University of Exeter Medical School, RILD Wellcome Wofston Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
  • Crosby AH; Faculty of Medicine, University of Southampton, Southampton, UK.
  • Hofstra RM; Biomedical and Clinical Genetic Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Eur J Hum Genet ; 24(11): 1627-1629, 2016 11.
Article in En | MEDLINE | ID: mdl-27352967
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Short Bowel Syndrome / Coxsackie and Adenovirus Receptor-Like Membrane Protein / Mutation Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Animals / Female / Humans / Newborn Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country:
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Short Bowel Syndrome / Coxsackie and Adenovirus Receptor-Like Membrane Protein / Mutation Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Animals / Female / Humans / Newborn Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: