Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene

Brain

Volumn 134, Issue 2, 2011, Pages 608-617

  Taioli, Federica ^a   Cabrini, Ilaria ^a   Cavallaro, Tiziana ^a   Acler, Michele ^a   Fabrizi, Gian Maria ^a  

^a UNIVERSITY OF VERONA   (Italy)

Author keywords

Charcot Marie Tooth disease Type 1A; hereditary neuropathy with liability to pressure palsies; micromutations; peripheral myelin protein 22 (PMP22); tomaculous neuropathy

Indexed keywords

PERIPHERAL MYELIN PROTEIN 22; RNA;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BINDING SITE; CHILD; CONTROLLED STUDY; DEMYELINATING NEUROPATHY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EXON; FEMALE; GENE DELETION; GENE DUPLICATION; GENE MAPPING; GENE MUTATION; GENETIC TRANSCRIPTION; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR BIOLOGY; MOTOR NERVE CONDUCTION; NERVE CONDUCTION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SCHOOL CHILD;

EID: 79551709743     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awq374     Document Type: Article

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