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Updated: Jul 6, 2026

09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I
Yoshihiro Maruo1, Ishwar Chander Verma, Katsuyuki Matsui
1Department of Pediatrics, Shiga University of Medical Science, Shiga, Japan.
Journal of Pediatric Gastroenterology and Nutrition
|April 1, 2008
Abstract
No abstract available in PubMed .
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Translation
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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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Translation Produces the Building Blocks of Life
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Mutations
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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
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While point mutations are changes in a single nucleotide in...
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