A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E [2]

Neurogenetics

Volumn 6, Issue 1, 2005, Pages 49-50

  Andrigo, Cinzia ^a   Boito, Chiara ^a   Prandini, Paola ^a   Mostacciuolo, Maria Luisa ^a   Siciliano, Gabriele ^b   Angelini, Corrado ^a   Pegoraro, Elena ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b UNIVERSITY OF PISA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

NEUROFILAMENT PROTEIN;

ADULT; CASE REPORT; DNA POLYMORPHISM; FEMALE; GENE; GENE INSERTION; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LETTER; NEUROFILAMENT LIGHT CHAIN GENE; PRIORITY JOURNAL;

ADULT; AXONS; BASE SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; DNA PRIMERS; FEMALE; HUMANS; MALE; MUTATION; NEUROFILAMENT PROTEINS; REFERENCE VALUES;

EID: 15444381242     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-004-0202-3     Document Type: Letter

References (8)

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2. Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V (2003) Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 126:590-597
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