Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W

@inproceedings{Gao2017RetrospectiveAI,
  title={Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W},
  author={Jackson Gao and Leera D’Souza and Keith Wetherby and Christian Antolik and Melissa Reeves and David R Adams and Santa J. Tumminia and Xinjing Wang},
  booktitle={Cell & Bioscience},
  year={2017}
}
Oculocutaneous albinism (OCA) is an autosomal recessive disorder. A significant portion of OCA patients has been found with a single pathogenic variant either in the TYR or the OCA2 gene. Diagnostic sequencing of the TYR and OCA2 genes is routinely used for molecular diagnosis of OCA subtypes. To study the possibility that genomic abnormalities with single… CONTINUE READING