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| Untersuchte Arbeit: Seite: 86, Zeilen: 3-7 |
Quelle: Shchelochkov et al 2009 Seite(n): 1102, Zeilen: l.col: 35 ff. |
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| Decreased expression resulting from a gene deletion causes a phenotype usually similar to that observed with loss-of-function point mutations of a ‘‘dosage-sensitive’’ gene. Increased expression, resulting from gene duplication may convey clinical findings that are different, and sometimes divergent from the deletion phenotype (Bi 2009). | Decreased expression resulting from a gene deletion causes a phenotype usually similar to that observed with loss-of-function point mutations, for example, nonsense and frame-shift alleles for a ‘‘dosage-sensitive’’ gene. Increased expression of a dosage-sensitive gene resulting from a gene duplication may convey clinical findings which are different, and sometimes divergent from the deletion phenotype [Potocki et al., 2007; Girirajan et al., 2008; Bi et al., 2009]. |
The source is not mentioned. Bi et al. (2009) does not contain the parallel text. |
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