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1. 表皮水疱症のマネージメントの概要overview of the management of epidermolysis bullosa [show details]
…ignoring of premature termination codon mutations in patients with recessive diseases. At least 25 percent of patients with RDEB have one or two premature termination codon mutations in the COL7A1 gene. Almost …
2. 遺伝学：用語集genetics glossary of terms [show details]
…synonymous variants. Nonsense variants are coding variants that result in the introduction of a stop codon A frameshift mutation results from an insertion or deletion of a number of bases not divisible by …
3. サラセミア症候群の分子遺伝学的特性molecular genetics of the thalassemia syndromes [show details]
… translation requires an initiator methionine codon, a continuously open "reading frame" (ORF) in which each three base codon read in succession downstream of the initiator codon codes for an amino acid, and a normally …
4. 遺伝学の基礎概念：DNA制御と遺伝子発現basic genetics concepts dna regulation and gene expression [show details]
…three-base sequence (an anti-codon) complementary to an mRNA triplet. There are 20 amino acids, each encoded by a three-nucleotide mRNA sequence known as a codon There are 64 codons; thus, there is some redundancy …
5. ミトコンドリアの構造、機能、および遺伝学mitochondrial structure function and genetics [show details]
…genes. The genetic code of mitochondrial DNA differs slightly from the universal genetic code of nuclear DNA in that certain mitochondrial trinucleotides encode different amino acids or stop codons than those …