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Post-Mortem Diagnosis of Heme Oxygenase-1 Deficiency by Whole Exome Sequencing in an Iranian Child
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: (4209 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.
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متن کامل [PDF 188 kb]
(1611 دریافت)
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نوع مطالعه: Case Report |
موضوع مقاله:
Genetics & Disease
دریافت: 1398/6/30 | پذیرش: 1399/1/22 | انتشار: 1399/3/9
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