De novo mutation of the myelin Po gene in Dejerine−Sottas disease (hereditary motor and sensory neuropathy type III)

Nature Genetics

Volumn 5, Issue 3, 1993, Pages 266-268

  Hayasaka, Kiyoshi ^a   Himoro, Masato ^a   Sawaishi, Yukio ^a   Nanao, Kenji ^a   Takahashi, Tsutomu ^a   Takada, Goro ^a   Nicholson, Garth A ^b   Ouvrier, Robert A ^c   Tachi, Nobutada ^d  

^a AKITA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF SYDNEY   (Australia)

^c Children's Hospital   (Australia)

^d SAPPORO MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MYELIN;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHROMOSOME 1; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HUMAN; MALE;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 17; DNA; DNA PRIMERS; GENES, DOMINANT; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HETEROZYGOTE; HUMAN; MALE; MOLECULAR SEQUENCE DATA; MYELIN P0 PROTEIN; MYELIN PROTEINS; POINT MUTATION; PROTEIN CONFORMATION;

EID: 0027422165     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1193-266     Document Type: Article

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