International Journal of Molecular and Cellular Medicine (IJMCM)
Cellular and Molecular Biology Research Center, Babol University of Medical Sciences
Sat, May 10, 2025
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Volume 8, Issue 4 (Int J Mol Cell Med 2019)
Int J Mol Cell Med 2019, 8(4): 300-306 |
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Tahghighi F, Parvaneh N, Ziaee V. Post-Mortem Diagnosis of Heme Oxygenase-1 Deficiency by Whole Exome Sequencing in an Iranian Child. Int J Mol Cell Med 2019; 8 (4) :300-306
URL: http://ijmcmed.org/article-1-1161-en.html
URL: http://ijmcmed.org/article-1-1161-en.html
1- Children's Medical Center, Pediatrics Center of Excellence, Tehran, Iran; Department of Pediatrics, Tehran University of Medical Sciences,Tehran, Iran.
2- Division of Allergy and Clinical immunology, Department of Pediatrics, Tehran University of Medical Sciences,Tehran, Iran; Research Center for Immunodeficiencies, Tehran University of Medical Sciences, Tehran, Iran.
3- Department of Pediatrics, Tehran University of Medical Sciences,Tehran, Iran; Pediatric Rheumatology Research Group, Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran. ,Ziaee@tums.ac.ir
2- Division of Allergy and Clinical immunology, Department of Pediatrics, Tehran University of Medical Sciences,Tehran, Iran; Research Center for Immunodeficiencies, Tehran University of Medical Sciences, Tehran, Iran.
3- Department of Pediatrics, Tehran University of Medical Sciences,Tehran, Iran; Pediatric Rheumatology Research Group, Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran. ,
Abstract: (4879 Views)
Heme oxygenase-1 (HO-1) is an inducible enzyme involved in the catalysis of heme conversion into biliverdin. We describe a patient with a novel stop-gain mutation in the HMOX1 coding sequence resulting in HO-1 deficiency.
Type of Study: Case Report |
Subject:
Genetics & Disease
Received: 2019/09/21 | Accepted: 2020/04/10 | Published: 2020/05/29
Received: 2019/09/21 | Accepted: 2020/04/10 | Published: 2020/05/29
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