Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene

Clinical Genetics

Volumn 78, Issue 1, 2010, Pages 81-87

  Brozkova D ^a   Mazanec, R ^b   Haberlova J ^a   Sakmaryova I ^a   Seeman, P ^a  

^a Department of Child Neurology   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

Author keywords

CMT; CMT1B; Hereditary neuropathy; HMSN III; MPZ; P0

Indexed keywords

MYELIN PROTEIN; MYELIN PROTEIN ZERO; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ASSESSMENT; COMPUTER MODEL; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRESCHOOL CHILD; PRIORITY JOURNAL; AGED; ELECTROPHYSIOLOGY; FAMILY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETICS; MIDDLE AGED; MUTATION; PHENOTYPE; PREJUDICE; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; ELECTROPHYSIOLOGY; FAMILY; FEMALE; GENETIC ASSOCIATION STUDIES; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; MALE; MIDDLE AGED; MUTATION; MYELIN P0 PROTEIN; PHENOTYPE; POLYMORPHISM, GENETIC; PREJUDICE; YOUNG ADULT;

EID: 77954576903     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01423.x     Document Type: Article

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