نتایج جستجو برای: incorrect deletion

تعداد نتایج: 99820  

Journal: :Postgraduate Medical Journal 1974

Journal: :iranian red crescent medical journal 0
ziba soltani genomic research center, shahid beheshti university of medical sciences, tehran, ir iran fatemeh karami department of medical genetics, school of medicine, tehran university of medical sciences, tehran, ir iran vahidreza yassaee genomic research center, shahid beheshti university of medical sciences, tehran, ir iran feyzollah hashemi gorji genomic research center, shahid beheshti university of medical sciences, tehran, ir iran mahdieh talebzadeh genomic research center, shahid beheshti university of medical sciences, tehran, ir iran mohammad miryounesi genomic research center, shahid beheshti university of medical sciences, tehran, ir iran; genomic research center, shahid beheshti university of medical sciences, tehran, ir iran. tel: +98-2122439959, fax: +98-2122439961

conclusions this finding may help improve early detection, differential diagnosis, genetic counseling, and even treatment of patients with pku. introduction phenylketonuria (pku) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (pah) gene. most of the pah mutations are missense mutations (67%), which are followed by sma...

Journal: :international journal of molecular and cellular medicine 0
maryam rezaei cellular and molecular research center, zahedan university of medical sciences, zahedan, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی زاهدان (zahedan university of medical sciences) mohammad hashemi cellular and molecular research center, zahedan university of medical sciences, zahedan, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی زاهدان (zahedan university of medical sciences) seyed mehdi hashemi department of internal medicine, school of medicine, zahedan university of medical sciences, zahedan, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی زاهدان (zahedan university of medical sciences) mohammad ali mashhadi department of internal medicine, school of medicine, zahedan university of medical sciences, zahedan, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی زاهدان (zahedan university of medical sciences) mohsen taheri genetics of non-communicable diseases research center, zahedan university of medical sciences, zahedan, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی زاهدان (zahedan university of medical sciences)

breast cancer (bc) is considered as one of the most important causes of death worldwide. previous studies showed that apolipoprotein b mrna- editing catalytic polypeptide-like 3 (apobec3) gene deletion significantly increased the risk of bc risk in chinese and european women. the present study aimed to assess the possible impact of apobec3 deletion and the risk of bc in a sample of iranian popu...

Journal: :Deutsches Aerzteblatt Online 2011

Journal: :American Journal of Respiratory and Critical Care Medicine 2009

M Motvali bashi R Mahmodi Z Hojati Z Rezaei

Background & Aims: The most significant cause of infertility in men is the genetic deletion in the azoospermia factor (AZF) region that is caused by the process of intra- and inter-chromosomal homologous recombination in amplicons. Homologous recombination could also result in partial deletions in AZF region. The aim of this research was to determine the association between the partial AZFc del...

Journal: :Investigative ophthalmology & visual science 2011
Hua Yang Hans E Grossniklaus

In their letter in the December 2010 issue, “Author Response: Bevacizumab Suppression of Establishment of Micrometastases in Experimental Ocular Melanoma” Yang et al. state that “bevacizumab has been used in mouse models of choroidal neovascularization” and quote Hua et al., for which I am the corresponding author. This is an incorrect and misleading reference. We certainly did not show that be...

Journal: :Structure 2011
Olga Rechkoblit James C Delaney John M Essigmann Dinshaw J Patel

DNA is susceptible to alkylation damage by a number of environmental agents that modify the Watson-Crick edge of the bases. Such lesions, if not repaired, may be bypassed by Y-family DNA polymerases. The bypass polymerase Dpo4 is strongly inhibited by 1-methylguanine (m1G) and 3-methylcytosine (m3C), with nucleotide incorporation opposite these lesions being predominantly mutagenic. Further, ex...

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