Six new gap junction beta 1 gene mutations and their phenotypic expression in czech patients with charcot-marie-tooth disease

Genetic Testing and Molecular Biomarkers

Volumn 14, Issue 1, 2010, Pages 3-7

  Brožková, Dana ^a   Mazanec, Radim ^a   Haberlová, Jana ^a   Sakmaryová, Iva ^a   Šubrt, Ivan ^b   Seeman, Pavel ^a  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

GAP JUNCTION BETA 1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CHROMOSOME 17P; CLINICAL ARTICLE; COMPUTER MODEL; CONTROLLED STUDY; CZECH REPUBLIC; FAMILIAL DISEASE; FEMALE; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; PATHOGENICITY; PEDIGREE; PHENOTYPE;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CASE-CONTROL STUDIES; CHARCOT-MARIE-TOOTH DISEASE; CODON, INITIATOR; CONNEXINS; CZECH REPUBLIC; FEMALE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SEQUENCE HOMOLOGY, AMINO ACID; YOUNG ADULT;

EID: 77049105231     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2009.0093     Document Type: Article

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