Identification of a de novo mutation in SPG11.
Identifieur interne : 002991 ( Ncbi/Curation ); précédent : 002990; suivant : 002992Identification of a de novo mutation in SPG11.
Auteurs : Paola S. Denora ; Knut Brockmann ; Marianna Ciccolella ; Jeremy Truchetto ; Giovanni Stevanin ; Filippo M. SantorelliSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- Adolescent, Atrophy (complications), Child, Chromosomes, Human, Pair 15 (genetics), Chromosomes, Human, Y (genetics), Corpus Callosum (pathology), DNA Mutational Analysis, Exons (genetics), Female, Humans, Male, Paraplegia (complications), Paraplegia (genetics), Pedigree, Point Mutation (genetics), Proteins (genetics), Young Adult.
- MESH :
- chemical , genetics : Proteins.
- complications : Atrophy, Paraplegia.
- genetics : Chromosomes, Human, Pair 15, Chromosomes, Human, Y, Exons, Paraplegia, Point Mutation.
- pathology : Corpus Callosum.
- Adolescent, Child, DNA Mutational Analysis, Female, Humans, Male, Pedigree, Young Adult.
DOI: 10.1002/mds.22964
PubMed: 20108361
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pubmed:20108361Le document en format XML
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