Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: Nonsense mutation probably causes a recessive phenotype

Journal of Human Genetics

Volumn 54, Issue 2, 2009, Pages 94-97

  Abe, Akiko ^a   Numakura, Chikahiko ^a   Saito, Kayoko ^b   Koide, Hiroyoshi ^c   Oka, Nobuyuki ^d   Honma, Akira ^e   Kishikawa, Yumiko ^a   Hayasaka, Kiyoshi ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c Hallo Clinic   (Japan)

^d Minami Kyoto National Hospital   (Japan)

^e Honma Child Clinic   (Japan)

Author keywords

Charcot Marie Tooth disease; NEFL; Neurofilament

Indexed keywords

NEUROFILAMENT LIGHT CHAIN POLYPEPTIDE; POLYPEPTIDE; UNCLASSIFIED DRUG; NEUROFILAMENT PROTEIN; NEUROFILAMENT PROTEIN L; STOP CODON;

ADOLESCENT; ADULT; ARTICLE; CHILD; COHORT ANALYSIS; DEMYELINATION; FEMALE; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; RECESSIVE INHERITANCE; GENETICS; PHENOTYPE; PRESCHOOL CHILD; RECESSIVE GENE; STOP CODON;

ADOLESCENT; ADULT; CHARCOT-MARIE-TOOTH DISEASE; CHILD, PRESCHOOL; CODON, NONSENSE; FEMALE; GENES, RECESSIVE; HUMANS; MALE; NEUROFILAMENT PROTEINS; PHENOTYPE;

EID: 60749123443     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2008.13     Document Type: Article

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