PMEL is mutated in oculocutaneous albinism
Lama AlAbdi, Muneera Alshammari, Rana Helaby, Arif O. Khan, Fowzan S. Alkuraya
Topics & Concepts
Oculocutaneous albinismBiologyGeneticsAlbinismMendelian inheritanceDisease gene identificationPigmentation disorderMelanosomeExome sequencingGenetic heterogeneityLoss functionMelaninMutationGenePhenotypemelanin and skin pigmentationRNA regulation and diseaseBiochemical Analysis and Sensing Techniques