A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

Human Molecular Genetics

Volumn 10, Issue 4, 2001, Pages 415-421

  Guilbot, Angèle ^a   Williams, Anna ^b   Ravisé, Nicole ^a   Verny, Christophe ^a   Brice, Alexis ^a   Sherman, Diane L ^b   Brophy, Peter J ^b   LeGuern, Eric ^a   Delague, Valérie ^c   Bareil, Corinne ^d   Mégarbané, André ^c   Claustres, Mireille ^d  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

^c SAINT JOSEPH UNIVERSITY   (Lebanon)

^d Institute of Biology   (France)

Author keywords

[No Author keywords available]

Indexed keywords

NERVE PROTEIN; PERIAXIN; UNCLASSIFIED DRUG;

ANIMAL MODEL; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CELL FUNCTION; CHROMOSOME 19Q; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DEMYELINATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LEBANON; LIMB; MOUSE; MUSCLE ATROPHY; MUSCLE WEAKNESS; MUTANT; MYELIN SHEATH; MYELINATED NERVE; MYELINATION; NERVE BIOPSY; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PERIPHERAL NERVOUS SYSTEM; PRIORITY JOURNAL; SCHWANN CELL; SENSORY DYSFUNCTION; SURAL NERVE; X CHROMOSOME LINKAGE;

ANIMALIA;

EID: 0035864930     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.4.415     Document Type: Article

References (19)

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