Identification of a novel SLC45A2 mutation in albinism by targeted next-generation sequencing
“Identification of a novel SLC45A2 mutation in albinism by targeted next-generation sequencing”, vol. 15. p. -, 2016.
, Albinism is a diverse group of hypopigmentary disorders caused by multiple-genetic defects. The genetic diagnosis of patients affected with albinism by Sanger sequencing is often complex, expensive, and time-consuming. In this study, we performed targeted next-generation sequencing to screen for 16 genes in a patient with albinism, and identified 21 genetic variants, including 19 known single nucleotide polymorphisms, one novel missense mutation (c.1456 G>A), and one disease-causing mutation (c.478 G>C).