Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

American Journal of Human Genetics

Volumn 96, Issue 6, 2015, Pages 883-893

  Zech, Michael ^a,b,c   Lam, Daniel D ^b   Francescatto, Ludmila ^d   Schormair, Barbara ^a,c,e   Salminen, Aaro V ^c   Jochim, Angela ^a   Wieland, Thomas ^c   Lichtner, Peter ^c,e   Peters, Annette ^c   Gieger, Christian ^c   Lochmüller, Hanns ^f   Strom, Tim M ^c,e   Haslinger, Bernhard ^a   Katsanis, Nicholas ^d   Winkelmann, Juliane ^a,b,c,g  

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^f NEWCASTLE UNIVERSITY   (United Kingdom)

^g Technische Universität München Munich Cluster for Systems Neurology   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; MESSENGER RNA; COLLAGEN TYPE 6;

ANIMAL CELL; ARTICLE; CONTROLLED STUDY; DYSTONIA; EMBRYO; EXOME; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIATION; HUMAN; HUMAN CELL; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; ZEBRA FISH; ANIMAL; BIOLOGY; CASE REPORT; DNA MUTATIONAL ANALYSIS; DYSTONIC DISORDER; GENETICS; IN SITU HYBRIDIZATION; MOLECULAR GENETICS; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; RECESSIVE GENE; SKELETAL MUSCLE;

ANIMALS; BASE SEQUENCE; COLLAGEN TYPE VI; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; DYSTONIC DISORDERS; EXOME; GENES, RECESSIVE; GENETIC TESTING; GENETIC VARIATION; IN SITU HYBRIDIZATION; MAGNETIC RESONANCE IMAGING; MICE; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; PEDIGREE; ZEBRAFISH;

EID: 84929095495     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.04.010     Document Type: Article

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