Pyruvate kinase deficiency and its gene mutations in newborns with jaundice in East Azerbaijan province year 2014
نویسندگان
چکیده
منابع مشابه
Prevalence of Pyruvate Kinase Deficiency among the Newborns (Shiraz-Iran)
Background: The frequency of pyruvate kinase (PK) deficiency, an autosomal recessive defect, is approximately 3 per 10,000 individuals in Shiraz and surrounding areas, and is increased due to high consanguinity marriage frequency. The purpose of this study is to obtain data on the frequency and spectrum of gene mutation of PK in newborns, from Shiraz and surrounding areas. Materials and Methods...
متن کاملprevalence of pyruvate kinase deficiency among the newborns (shiraz-iran)
background: the frequency of pyruvate kinase (pk) deficiency, an autosomal recessive defect, is approximately 3 per 10,000 individuals in shiraz and surrounding areas, and is increased due to high consanguinity marriage frequency. the purpose of this study is to obtain data on the frequency and spectrum of gene mutation of pk in newborns, from shiraz and surrounding areas. materials and methods...
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Background: AIDS is an emerging disease, and despite the fact that it has not been recognized for the first half-century since its inception, it has been known as a century-old disaster. This disease, by proliferation in immune cells and ultimately by weakening the immune system, makes people vulnerable to diseases. Our study seeks to examine existing cases of HIV/AIDS patients in East Azerbaij...
متن کاملPoint mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency.
The molecular alterations responsible for the characteristic enzyme abnormalities in pyruvate kinase (PK) deficiency were investigated in two unrelated children homozygous for PK deficiency. Both variant enzymes were characterized according to the recommendations of the International Committee for Standardization in Haematology. Genomic DNA was specifically amplified by the polymerase chain rea...
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چکیده: سرطان پستان دومین عامل مرگ مرتبط با سرطان در خانم ها است. از آنجا که سرطان پستان یک تومور وابسته به هورمون است، می تواند توسط وضعیت هورمون های استروئیدی شامل استروژن و پروژسترون تنظیم شود. استروژن نقش مهمی در توسعه و پیشرفت سرطان پستان ایفا می کند و تاثیر خود را روی بیان ژن های هدف از طریق گیرنده های استروژن اعمال می کند. اما گروه دیگری از گیرنده های هسته ای به نام گیرنده های مرتبط به ا...
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ژورنال
عنوان ژورنال: Medical Journal of Tabriz University of Medical Sciences and Health Services
سال: 2019
ISSN: 1608-5671,2008-160X
DOI: 10.34172/mj.2019.008