De novo mutation of the myelin po gene in déjérine-sottas disease (hereditary motor and sensory neuropathy type III): Two amino acid insertion after Asp 118

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Ikegami, Tohru ^a   Nicholson, Garth ^b   Ikeda, Hiroyuki ^a   Ishida, Akihiro ^a   Johnston, Heather ^c   Wise, Grahame ^c   Ouvrier, Robert ^d   Hayasaka, Kiyoshi ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b UNIVERSITY OF SYDNEY   (Australia)

^c PRINCE OF WALES HOSPITAL   (Australia)

^d Children's Hospital   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MYELIN PROTEIN; PHENYLALANINE; TYROSINE;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CHEMISTRY; FAMILY HEALTH; FATALITY; FEMALE; GENE EXPRESSION REGULATION; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INFANT; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; POLYMERASE CHAIN REACTION; AUTOPSY; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; MYELIN DEFICIENCY; PRIORITY JOURNAL;

ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FATAL OUTCOME; FEMALE; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; INFANT; MALE; MUTAGENESIS, INSERTIONAL; MUTATION; MYELIN P0 PROTEIN; PEDIGREE; PHENYLALANINE; POLYMERASE CHAIN REACTION; TYROSINE;

EID: 0031984943     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110134     Document Type: Article

References (16)

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