A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes

Neurogenetics

Volumn 5, Issue 3, 2004, Pages 171-175

  Kleopa, Kleopas A ^a   Georgiou, Domna Maria ^a   Nicolaou, Paschalis ^a   Koutsou, Pantelitsa ^a   Papathanasiou, Eleftherios ^a   Kyriakides, Theodores ^a   Christodoulou, Kyproula ^a  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

Author keywords

Charcot Marie Tooth disease; Novel PMP22 mutation; Peripheral neuropathy; Pressure palsies

Indexed keywords

PERIPHERAL MYELIN PROTEIN 22; PHENYLALANINE; SERINE;

ADULT; ARTICLE; CLINICAL ARTICLE; CYPRUS; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; NERVE CONDUCTION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PMP22 GENE; POINT MUTATION; POLYNEUROPATHY; PRIORITY JOURNAL;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; ELECTROPHYSIOLOGY; EXONS; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; MYELIN PROTEINS; NEURONS; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE; PHENYLALANINE; POINT MUTATION; SEQUENCE ANALYSIS, DNA; SERINE;

EID: 5444230002     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-004-0184-1     Document Type: Article

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