Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial‐RNA‐import protein PNPase cause delayed myelination

Publisher: John Wiley & Sons Inc

E-ISSN: 1399-0004|93|2|242-247

ISSN: 0009-9163

Source: CLINICAL GENETICS, Vol.93, Iss.2, 2018-02, pp. : 242-247

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Abstract