Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E

Annals of Neurology

Volumn 49, Issue 2, 2001, Pages 245-249

  De Jonghe, Peter ^a,d   Mersivanova, Irina ^b   Nelis, Eva ^a,b   Favero, Jurgen Del ^a   Martin, Jean Jacques ^c   Van Broeckhoven, Christine ^b   Evgrafov, Oleg ^c   Timmerman, Vincent ^a  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^c RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

^d UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 8P; CHROMOSOME SEGREGATION; CLINICAL ARTICLE; DNA SEQUENCE; FAMILIAL DISEASE; FEMALE; HEREDITARY MOTOR SENSORY NEUROPATHY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MALE; MISSENSE MUTATION; NEUROFILAMENT; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; CHARCOT-MARIE-TOOTH DISEASE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; FEMALE; HUMANS; MUTATION; NEUROFILAMENT PROTEINS; PEDIGREE; TIME FACTORS;

EID: 0035136847     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(20010201)49:2<245::AID-ANA45>3.0.CO;2-A     Document Type: Article

References (20)

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3. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)
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