Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy

American Journal of Human Genetics

Volumn 92, Issue 6, 2013, Pages 946-954

  Neveling, Kornelia ^a   Martinez Carrera, Lilian A ^b   Hölker, Irmgard ^b   Heister, Angelien ^a   Verrips, Aad ^c   Hosseini Barkooie, Seyyed Mohsen ^b   Gilissen, Christian ^a,d,e   Vermeer, Sascha ^a   Pennings, Maartje ^a   Meijer, Rowdy ^a   Te Riele, Margot ^a   Frijns, Catharina J M ^f   Suchowersky, Oksana ^g   Maclaren, Linda ^h   Rudnik Schöneborn, Sabine ⁱ   Sinke, Richard J ^j   Zerres, Klaus ⁱ   Lowry, R Brian ^h   Lemmink, Henny H ^j   Garbes, Lutz ^b   Veltman, Joris A ^a,d   Schelhaas, Helenius J ^a   Scheffer, Hans ^a   Wirth, Brunhilde ^b   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF COLOGNE   (Germany)

^c CANISIUS WILHELMINA HOSPITAL   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^f UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^g UNIVERSITY OF ALBERTA   (Canada)

^h UNIVERSITY OF CALGARY   (Canada)

ⁱ RWTH AACHEN UNIVERSITY   (Germany)

^j UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CLATHRIN; DROSOPHILA HOMOLOG 2 PROTEIN; GOLGIN; MESSENGER RNA; MOTOR ADAPTOR PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL VACUOLE; CONTRACTURE; DEGENERATION; DNA FRAGMENTATION; ENDOCYTOSIS; EXOME; FEMALE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GOLGI COMPLEX; HUMAN; HUMAN CELL; LINKAGE ANALYSIS; MOTONEURON; MUSCLE WEAKNESS; PATHOGENESIS; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; TRANSIENT TRANSFECTION;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CARRIER PROTEINS; CHILD, PRESCHOOL; CONSERVED SEQUENCE; FEMALE; FIBROBLASTS; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; GOLGI APPARATUS; HELA CELLS; HUMANS; MALE; MUSCULAR ATROPHY, SPINAL; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 84878883752     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.04.011     Document Type: Article

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