NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1

Journal of Human Genetics

Volumn 53, Issue 10, 2008, Pages 936-940

  Shin, Ji Soo ^a   Chung, Ki Wha ^b   Cho, Sun Young ^a   Yun, Jiyoung ^a   Hwang, Su Jin ^a   Kang, Sung Hee ^b   Cho, En Min ^b   Kim, Seung Min ^c   Choi, Byung Ok ^a  

^a Mokdong Hospital   (South Korea)

^b Kongju National University   (South Korea)

^c Yonsei University College of Medicine   (South Korea)

Author keywords

Charcot Marie Tooth disease type 1F (CMT1F); Neurofilament light chain polypeptide (NEFL); Peripheral neuropathy; Pro22Arg

Indexed keywords

NEUROFILAMENT LIGHT CHAIN POLYPEPTIDE; PROLINE; PROTEIN; PROTEIN KINASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; FEMALE; GENE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOPATHOLOGY; HUMAN; MALE; NERVE FIBER; NEUROFILAMENT LIGHT CHAIN POLYPEPTIDE GENE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTROPHYSIOLOGY; FEMALE; GENOTYPE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEUROFILAMENT PROTEINS; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID;

ALLIUM CEPA;

EID: 52649104883     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-008-0333-8     Document Type: Article

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