نتایج جستجو برای: homozygote

تعداد نتایج: 22474  

انصاری, شهلا, جلالی, مصطفی, سماعی, هادی,

  Protein-c deficiency is a rare disease that is two form: Homozygote and Heterozygote. Protein-c circulates in healthy adult Plasma is valu ranging from 70-140 Percent. Protein-C level in newborns are 20-40 Percent of normal adult level. Newborn with homozygote protein-C deficiency almost always manifest skin necrosis, fulminant purpura after birth and or central nervous system thrombosis. Mut...

2010
Arun Seshachalam Sanju Cyriac Neelesh Reddy Sagar T. Gnana

Ataxia telangiectasia (AT) is a rare autosomal recessive disease resulting in progressive degeneration of multiple systems in the body. Both A-T homozygote and heterozygote are at increased risk of developing malignancy. We report a family in which three generations were affected by this disorder. Our index case is a 12-year-old female child, born of second degree consanguineous marriage diagno...

Journal: :Jurnal respirologi Indonesia 2022

Background: Microsomal epoxide hydrolase 1 (EPHX1) plays an important role in both activation and detoxification of polycyclic aromatic hydrocarbons (PAH) amines. Polymorphism EPHX1 His139Arg susceptibility to lung cancer has been reported with inconsistent outcomes. Aim this study was analyze the relationship between polymorphism smokers.Method: Consecutive sampling case-control applied. Genot...

Journal: :Frontiers in Psychiatry 2023

Objective Alcohol use disorder (AUD) is a common mental characterized by repeated withdrawal episodes. Negative emotions during are the primary factors affecting successful abstinence. Oxytocin critical modulator of emotions. OXTR, oxytocin receptor, may also be promising candidate for treating alcohol symptoms. Previous studies indicated that people with different genotypes OXTR rs2254298 were...

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