Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Østern, Rune ^a,b   Fagerheim, Toril ^a   Hjellnes, Helene ^a   Nygård, Bjørn ^a   Mellgren, Svein I ^a,b   Nilssen, Øivind ^a,b  

^a UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^b UNIVERSITY OF TROMSØ   (Norway)

Author keywords

Charcot Marie Tooth; Family investigations; Genetic and inherited disorders; Mutation analysis; Neuromuscular diseases

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ASSESSMENT; CLINICAL EVALUATION; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; PATHOGENICITY; PHENOTYPE; PRESCHOOL CHILD; SCHOOL CHILD; SEGREGATION ANALYSIS; VERY ELDERLY; YOUNG ADULT;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; HUMANS; MALE; MOLECULAR EPIDEMIOLOGY; MUTATION; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS; YOUNG ADULT;

EID: 84892590661     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-12     Document Type: Article

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