Fig. 1
From: A new family with spastic paraplegia type 51 and novel mutations in AP4E1

In silico prediction of the c.942_943 + 3delinsCC (3delTGGTAinsCC) homozygous mutation of the AP4E1 gene in the proband with spastic paraplegia type 51. According to NC_000015.9, NM_001252127.2, NM_007347.5 the sequence is CACATATGGTA