4 research outputs found
Distribution of mutational status.
<p>UM GNAQ and GNA11 mutation status varies with tumor location and eye color. The GNAQ Q209P allele is almost uniquely found in UM originating from the central/choroidal area that is exposed to focused visible light. The GNAQ Q209L mutation, on the other hand, is correlated with light eyes (blue/grey).</p><p>Distribution of mutational status.</p
Sequence analysis of the GNAQ Q209P (A>C), GNAQ Q209L (A>T) and GNA11Q209L (A>T) hotspot mutations in UM.
<p>Sequence analysis of the GNAQ Q209P (A>C), GNAQ Q209L (A>T) and GNA11Q209L (A>T) hotspot mutations in UM.</p
Patient characteristics.
<p>Frequencies of relevant parameters of 133 UM</p><p>Patient characteristics.</p
Relationship of location and eye color.
<p>Light eye color in UM patients reflects the population distribution though choroidal UM may present the lower estimate of light eye color while ciliochoroidal and iridociliary UM present the upper limit of the population frequency.</p><p>Relationship of location and eye color.</p