International Journal of Molecular and Cellular Medicine (IJMCM)
Cellular and Molecular Biology Research Center, Babol University of Medical Sciences
دوشنبه 19 خرداد 1404
[Archive]
دوره 8، شماره 4 - ( 8-1398 )
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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-fa.html
URL: http://ijmcmed.org/article-1-1161-fa.html
Post-Mortem Diagnosis of Heme Oxygenase-1 Deficiency by Whole Exome Sequencing in an Iranian Child. مجله بین المللی سلولی و مولکولی. 1398; 8 (4) :300-306
: (4940 مشاهده)
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.
نوع مطالعه: Case Report |
موضوع مقاله:
Genetics & Disease
دریافت: 1398/6/30 | پذیرش: 1399/1/22 | انتشار: 1399/3/9
دریافت: 1398/6/30 | پذیرش: 1399/1/22 | انتشار: 1399/3/9
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