Identification of a de novo mutation in SPG11
Identifieur interne : 001C43 ( Main/Exploration ); précédent : 001C42; suivant : 001C44Identification of a de novo mutation in SPG11
Auteurs : Paola S. Denora [France, Italie] ; Knut Brockmann [Allemagne] ; Marianna Ciccolella [Italie] ; Jeremy Truchetto [France] ; Giovanni Stevanin [France, Italie] ; Filippo M. Santorelli [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-03-15.
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.
Url:
DOI: 10.1002/mds.22964
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 002763
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- to stream PubMed, to step Corpus: 001A11
- to stream PubMed, to step Curation: 001A11
- to stream PubMed, to step Checkpoint: 001839
- to stream Ncbi, to step Merge: 002991
- to stream Ncbi, to step Curation: 002991
- to stream Ncbi, to step Checkpoint: 002991
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Le document en format XML
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