Mutations of the same sequence of the myelin PO gene causing two different phenotypes

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Schiavon, Federica ^a   Rampazzo, Alessandra ^a   Merlini, Luciano ^b   Angelini, Corrado ^a   Mostacciuolo, Maria L ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b Chemotherapy Unit   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MYELIN; DNA; MYELIN PROTEIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; DEMYELINATION; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; ADOLESCENT; AMINO ACID SUBSTITUTION; CASE REPORT; CHEMISTRY; FEMALE; GENE DELETION; GENETICS; MALE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; POINT MUTATION; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; AMINO ACID SUBSTITUTION; CHARCOT-MARIE-TOOTH DISEASE; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; MYELIN P0 PROTEIN; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE DELETION;

EID: 0031964340     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110170     Document Type: Article

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