Gene Help
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چکیده
منابع مشابه
In-silico Evaluation of Rare Codons and their Positions in the Structure of ATP8b1 Gene
Background: Progressive familial intrahepatic cholestases (PFIC) are a spectrum of autosomal progressive liver diseases developing to end-stage liver disease. ATP8B1 deficiency caused by mutations in ATP8B1 gene encoding a P-type ATPase leads to PFIC1. The gene for PFIC1 has been mapped on a 19-cM region of 18q21-q22, and a gene defect in ATP8B1 can cause deregulations in bile salt transporters...
متن کاملشناسایی جهش های جدید در اگزون 11 ژنBRCA1 در بیماران مبتلا به سرطان پستان ارثی
Introduction: Breast cancer is the most common malignancy in women worldwide. BRCA1 is a tumor suppressor gene that is involved in DNA-damage repair. One of the significant risk factors of breast cancer is the family history. BRCA1 gene consists of 24 exons that encode a protein with 1863 amino acids. Exon 11 is the largest exons and most of the disease-linked mutations have been found in it. I...
متن کاملI-Cell Disease with GNPTAB Gene Mutation
I-cell disease is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. As clinical features of this condition mimic that of Hurler disease mutation studies help in the diagnosis. We present a case of I-cell disease in a neonate with GNPTAB gene mutation.
متن کاملHistopathological investigation of Skin Cancer and Study of CDKN2A Gene Polymorphism in Mazandaran Province, Iran
Skin cancer is one of the most important type of cancers in the world. In this way, molecular investigation in order to detect some novel mechanisms and polymorphisms involved in cancer development can be impressive and vital. In this way, the aim of this study was the histopathological investigation of skin cancer and its relationship with polymorphism of CDKN2A gene. This case-control study w...
متن کاملطراحی پرایمرهای اختصاصی برای مطالعه تنوع تک نوکلئوتیدی (SNP) در ژن ها و تعیین عملکرد آنها
There is a lot of information about genes sequence but their functions are still unknown. So, to fill the gap between structure and function of these sequences many reverse genetic researches have been done. Current experiment studying, how to design gene-specific primers, that can determine single nucleotide diversity and its impact on gene function.This research was condacted at International...
متن کاملRapid SARS-CoV-2 RT-LAMP assay setup using gene construct design approach
Background and Objective: The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is still an ongoing challenge in health system worldwide. Molecular detection methods including reverse transcription loop-mediated isothermal amplification (RT-LAMP) can help cutting off the transmission chain of the virus. In this study, prompt setting up of the RT-LAMP assays were investigated using ge...
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تاریخ انتشار 2017