Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing

BioMed Research International

Volumn 2014, Issue , 2014, Pages

  Høyer, Helle ^a,b   Braathen, Geir J ^a,b   Busk, Øyvind L ^a   Holla, Øystein L ^a   Svendsen, Marit ^a   Hilmarsen, Hilde T ^a   Strand, Linda ^a   Skjelbred, Camilla F ^a   Russell, Michael B ^b  

^a TELEMARK HOSPITAL   (Norway)

^b AKERSHUS UNIVERSITY HOSPITAL   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; MITOFUSIN 2; PERIPHERAL MYELIN PROTEIN 22;

AARS GENE; ARHGEF10 GENE; ARTICLE; CONTROLLED STUDY; DCTN1 GENE; DNA SEQUENCE; DYNC1H1 GENE; GENE DUPLICATION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; GJB1 GENE; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; POLG GENE; POPULATION GENETICS; REEP1 GENE; SETX GENE; SH3TC2 GENE; CHARCOT-MARIE-TOOTH DISEASE; GENETIC ASSOCIATION; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; MUTATION; PATHOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM;

CHARCOT-MARIE-TOOTH DISEASE; GENETIC ASSOCIATION STUDIES; GENETICS, POPULATION; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84904121526     PISSN: 23146133     EISSN: 23146141     Source Type: Journal    
DOI: 10.1155/2014/210401     Document Type: Article

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