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Case Report Identification of a novel SLC45A2 mutation in albinism by targeted next-generation sequencing.

Genetics and molecular research : GMR - 19 Sept 2016

Xue J J, Xue J F, Xue H Q, Guo Y Y, Liu Y, Ouyang N

Abstract excerpt

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...

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PMID: 27706749
DOI: 10.4238/gmr.15038743

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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