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. 2018 Oct 1;26(Suppl 1):113–819. doi: 10.1038/s41431-018-0247-7
Gene Family Exon Mutation
SPAST 2o, 21o 10 c.1291C>T (p.Arg431Term)
43o** 15 c.1663G>T (p.Asp555Asn)
44o 8 c.1107A>G (p.Thr369Thr)*
5** 11 .1391A>G (p.Glu464Gly)*
19 17 c.1750_1751delGAinsT
32 8 c.1139T>C (p.Leu380Pro)
35 10 c.1271delG*
44 1 c.286delG
54 9 c.1245+1G>A (IVS9+1G>A)
73** 9 c.1216A>G (p.Ile406Val)
75 15 c.1684C>T (p.Arg562Term)
53o 3 c.551A>C (p.Asn184Thr)
26o 6–16 del.ex6-16*
33o 1 del.ex1
59o** 10–12 dup.ex10-12
20 10–13 del.ex10-13*
84** 15–16 del.ex15-16*
88 1 dup.ex1*
ATL1 46, 37o 12 c.1243C>T (p.Arg415Trp)
13**, 6o 7 c.715C>T (p.Arg239Cys)
22 8 c.757G>A (p.Val253Ile)
51 12 c.1483C>T (p.Arg495Trp)
70** 8 c.773A>G (p.His258Arg)
42 1–14 del.ex1-14*