High frequency of SH3TC2 mutations in Czech HMSN I patients

Clinical Genetics

Volumn 80, Issue 4, 2011, Pages 334-345

  Lassuthova P ^a   Mazanec, R ^a   Vondracek P ^b   Siskova D ^c   Haberlova J ^a   Sabova J ^a   Seeman, P ^a  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^b UNIVERSITY HOSPITAL BRNO   (Czech Republic)

^c FAKULTNÍ THOMAYEROVA NEMOCNICE   (Czech Republic)

Author keywords

Charcot; Marie; Mutation; Peripheral neuropathy; SH3TC2 gene; Tooth 4C

Indexed keywords

PROTEIN SH3; PROTEIN SH3TC2; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; COMPUTER MODEL; CONTROLLED STUDY; CZECH REPUBLIC; FEMALE; GENE FREQUENCY; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; PATHOGENICITY; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SRC HOMOLOGY DOMAIN;

ADOLESCENT; ADULT; AGED; ALLELES; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CZECH REPUBLIC; EXONS; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PROTEINS; YOUNG ADULT;

EID: 80052628610     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01640.x     Document Type: Article

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