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In 2009, a fourth mutation was described in two children from a consanguineous Egyptian pedigree [18].
A third mutation was described in 2008 in two individuals from a population inhabiting a small Turkmenian mountain village [17].
Only recently, in 2013, an eighth mutation was described in a child from a consanguineous Indian pedigree [23].
A fifth mutation was described by our group in 2010 in a child from an Austrian pedigree without known consanguinity [20].
A T188A mutation was described in an Australian patient [25].
The R91W mutation was described in patients suffering from an early-onset retinal degeneration [25], who experience useful cone-mediated vision in the first decade of life [26].
Similar(40)
The primers used in construction and mutation are described in Supplementary information, Table S1.
The primers used for each point mutation are described in Table S1.
The method of analysis to detect the mutation is described in detail elsewhere.
For classification purposes, each mutation is described by 142 sequence-features.
Further biochemical and structural characterization of the effect of the stretcher mutation is described elsewhere.
More suggestions(15)
transformation was described
deployment was described
mutation was detected
mutation was verified
mutation was reported
mutation was obtained
mutation was confirmed
mutation was known
mutation was genotyped
mutation was determined
mutation was backcrossed
mutation was introduced
mutation was found
mutation was named
mutation was identified
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