Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies

European Journal of Human Genetics

Volumn 17, Issue 9, 2009, Pages 1129-1134

  Mandich, Paola ^a   Fossa, Paola ^a   Capponi, Simona ^a   Geroldi, Alessandro ^a   Acquaviva, Massimo ^a   Gulli, Rossella ^a   Ciotti, Paola ^a   Manganelli, Fiore ^b   Grandis, Marina ^a   Bellone, Emilia ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ASPARAGINE; CYSTEINE; GLUTAMIC ACID; MYELIN PROTEIN; MYELIN PROTEIN ZERO; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; DEMYELINATING NEUROPATHY; FRAMESHIFT MUTATION; GENE FUNCTION; GENE MUTATION; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NERVE CONDUCTION; NONSENSE MUTATION; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN STRUCTURE;

AXONS; CHARCOT-MARIE-TOOTH DISEASE; DEMYELINATING DISEASES; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; HUMANS; MUTATION; MUTATION, MISSENSE; MYELIN P0 PROTEIN; PERIPHERAL NERVOUS SYSTEM DISEASES;

EID: 69249217929     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.37     Document Type: Article

References (20)

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