Construct · 1 fields · 1 citations

genomic disorder: a standalone construct

One name. One construct. A landmark on the map.

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genomicdisorder1 CONSTRUCTGenomic disorderLUPSKI · MEDICAL GENETICS

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Medical genetics

a condition caused by DNA rearrangement that arises from the local structure of the genome, such as flanking repeats, rather than from a point mutation.

In medical genetics, genomic disorder refers to a condition caused by DNA rearrangement that arises from the local structure of the genome, such as flanking repeats, rather than from a point mutation. This meaning comes from Lupski (1998) in Trends in Genetics.[1]

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Nearby constructs

condition2 fields · 2 citationsjingle · one word, two constructsmutation4 fields · 4 citationsjingle · one word, four constructsstructure4 fields · 5 citationsjingle · one word, four constructs

References

  1. Lupski, J. R. (1998). Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends in Genetics, 14(10), 417-422. https://doi.org/10.1016/s0168-9525(98)01555-8

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