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A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.
Ali M, Khan SY, Rodrigues TA, Francisco T, Jiao X, Qi H, Kabir F, Irum B, Rauf B, Khan AA, Mehmood A, Naeem MA, Assir MZ, Ali MH, Shahzad M, Abu-Amero KK, Akram SJ, Akram J, Riazuddin S, Riazuddin S, Robinson ML, Baes M, Azevedo JE, Hejtmancik JF, Riazuddin SA. Ali M, et al. Among authors: ali mh. Hum Genet. 2021 Apr;140(4):649-666. doi: 10.1007/s00439-020-02238-z. Epub 2021 Jan 2. Hum Genet. 2021. PMID: 33389129
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