A splice site mutation is the cause of the high prevalence of oculocutaneous albinism type 2 in the Kuna population.
Carrasco
Androuw
A
Forbes
Elaine M
EM
Jeambrun
Pascale
P
Brilliant
Murray H
MH
D016115:Albinism, Oculocutaneous / Q000453:epidemiology / Q000235:genetics; D017398:Alternative Splicing / Q000235:genetics*; D006801:Humans; D007197:Indians, Central American / Q000235:genetics*; D009154:Mutation; D010176:Panama; D011110:Polymorphism, Genetic