IPN Mutations
Reference
| Title |
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. |
| Authors |
Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SC, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman |
| Reference |
Brain 126: 590-597, 2003
(PubMed ID:
12566280
)
|
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NEFL:
([Glu7Lys]+[Pro8Arg])
(Pro8Gln)
(Pro8Arg)
(Pro8Leu)
(Ser40Ser)
(Leu64Leu)
(Glu90Lys)
(Asn97Ser)
(Gln141Gln)
(Leu223Leu)
(Tyr240Tyr)
(Ser404Ser)
(Asp468Asn)
(Ala486Ala)
(Glu527del)
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Mutations
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