Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria

Publication date: Available online 4 November 2020Source: Clinica Chimica ActaAuthor(s): Sun Young Cho, Eunice Yuen-Ting Lau, David Chi-Kong Luk, Chun-Yiu Law, Chi-Kong Lai, Ching-Wan Lam
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research