SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease

Journal of Neurology

Volumn 259, Issue 3, 2012, Pages 515-523

  Fischer, Carina ^a   Trajanoski, Slave ^a   Papić, Lea ^a   Windpassinger, Christian ^a   Bernert, Günther ^b   Freilinger, Michael ^c   Schabhüttl, Maria ^a   Arslan Kirchner, Mine ^d   Javaher Haghighi, Poupak ^d,e   Plecko, Barbara ^a   Senderek, Jan ^f   Rauscher, Christian ^g   Löscher, Wolfgang N ^h   Pieber, Thomas R ^a   Janecke, Andreas R ^h   Auer Grumbach, Michaela ^a  

^a MEDICAL UNIVERSITY OF GRAZ   (Austria)

^b Preyersches Kinderspital   (Austria)

^c UNIV KLIN KINDER JUGENDHEILKUNDE   (Austria)

^d HANNOVER MEDICAL SCHOOL   (Germany)

^e Amedes MVZ Hamburg   (Germany)

^f RWTH AACHEN UNIVERSITY   (Germany)

^g Christian Doppler Klinik   (Austria)

^h INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

Autosomal recessive CMT; Gene; Hereditary neuropathies; Homozygosity mapping; SNP array

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BASE PAIRING; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; FEMALE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INBREEDING; MALE; MOLECULAR DIAGNOSIS; OUTBREEDING; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM ARRAY BASED HOMOZYGOSITY MAPPING;

ADOLESCENT; ADULT; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION PROFILING; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GTP PHOSPHOHYDROLASES; HSP27 HEAT-SHOCK PROTEINS; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; YOUNG ADULT;

EID: 84862523021     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-6213-8     Document Type: Article

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