Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type v

American Journal of Human Genetics

Volumn 91, Issue 1, 2012, Pages 139-145

  Beetz, Christian ^a   Pieber, Thomas R ^b   Hertel, Nicole ^a   Schabhüttl, Maria ^b   Fischer, Carina ^b   Trajanoski, Slave ^b   Graf, Elisabeth ^c   Keiner, Silke ^a   Kurth, Ingo ^a   Wieland, Thomas ^c   Varga, Rita Eva ^a   Timmerman, Vincent ^d   Reilly, Mary M ^e   Strom, Tim M ^c,f   Auer Grumbach, Michaela ^b  

^a JENA UNIVERSITY HOSPITAL   (Germany)

^b MEDICAL UNIVERSITY OF GRAZ   (Austria)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d UNIVERSITY OF ANTWERP   (Belgium)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f TECHNICAL UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

ARTICLE; DISTAL HEREDITARY MOTOR NEUROPATHY TYPE V; EXOME; GENE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; REEP1 GENE;

CELL LINE; EXOME; FEMALE; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES; SEQUENCE ANALYSIS, DNA;

EID: 84863986921     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.05.007     Document Type: Article

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