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Down syndrome

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... • Example: Hemoglobin in blood o Hemoglobin is made of four polypeptides. ...
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FROM SINGLE GENE TO PHENOTYPE: QUESTIONING A

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... cytes and peripheral blood dry drop. Two mutations in the IDUA gene were found, one in intron 8, splice site c.1190-1delG/N, p.Q70X, which has a high prevalence in the severe clinical forms (9, 11). The second mutation was introduced into the exon 12, c.1708G>C/N, p.D570H/N, in heterozygous form, wh ...
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HIV-1 Reverse Transcriptase
HIV-1 Reverse Transcriptase

... The dsDNA bound to the RT (2HMI) has a hybrid structure. The five base-pairs near the polymerase active site have a conformation similar to A-form DNA, while the nine basepairs towards the RNase active site have a conformation similar to B-form DNA. There is a significant bend involving the four ba ...
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Point mutation



A point mutation, or single base modification, is a type of mutation that causes a single nucleotide base change, insertion, or deletion of the genetic material, DNA or RNA. The term frameshift mutation indicates the addition or deletion of a base pair. A point mutant is an individual that is affected by a point mutation.Repeat induced point mutations are recurring point mutations, discussed below.
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