Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia

European Journal of Human Genetics

Volumn 23, Issue 10, 2015, Pages 1427-1430

  Ylikallio, Emil ^a   Kim, Doyoun ^b   Isohanni, Pirjo ^a,c   Auranen, Mari ^a,d   Kim, Eunjoon ^b,e   Lönnqvist, Tuula ^c   Tyynismaa, Henna ^a,f  

^a UNIVERSITY OF HELSINKI   (Finland)

^b Institute for Basic Science   (South Korea)

^c UNIVERSITY OF HELSINKI AND HELSINKI UNIVERSITY HOSPITAL   (Finland)

^d HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^e Korea Advanced Institute of Science and Technology (KAIST)   (South Korea)

^f UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; KIF1A PROTEIN; KINESIN; UNCLASSIFIED DRUG; KIF1A PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CHILD; COGNITIVE DEVELOPMENT; CONFORMATIONAL TRANSITION; ELECTROENCEPHALOGRAPHY; FEMALE; HUMAN; INHERITANCE; MALE; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PURE SPASTIC PARAPLEGIA; SCHOOL CHILD; SPASTIC PARAPLEGIA; GENETIC VARIATION; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; MISSENSE MUTATION; PARAPLEGIA; PEDIGREE;

CHILD; GENETIC VARIATION; HETEROZYGOTE; HUMANS; KINESIN; MALE; MUTATION, MISSENSE; PARAPLEGIA; PEDIGREE; PHENOTYPE; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84944168059     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.297     Document Type: Article

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