Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia

Journal of the Neurological Sciences

Volumn 284, Issue 1-2, 2009, Pages 90-95

  Svenstrup, Kirsten ^a,b   Bross, Peter ^c   Koefoed, Pernille ^a,b   Hjermind, Lena E ^a,b   Eiberg, Hans ^a   Born, A Peter ^b   Vissing, John ^b   Gyllenborg, Jesper ^d   Nørremølle, Anne ^a   Hasholt, Lis ^a   Nielsen, Jørgen E ^a,b  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b Rigshospitalet   (Denmark)

^c AARHUS UNIVERSITY HOSPITAL   (Denmark)

^d GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Hereditary spastic paraplegia; HSP; HSPD1; SPAST; SPG13; SPG3A; SPG4

Indexed keywords

ARGININE; ASPARAGINE; GLUTAMIC ACID; GLUTAMINE; LEUCINE; LYSINE; PROLINE; SERINE;

AMINO ACID SEQUENCE; ARTICLE; CONTROLLED STUDY; DEGENERATIVE DISEASE; EXON; GENE; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HSPD1 GENE; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPAST GENE; SPG3A GENE; SPG4 GENE;

ADENOSINE TRIPHOSPHATASES; AMINO ACID MOTIFS; AMINO ACID SUBSTITUTION; CELLS, CULTURED; CHAPERONIN 60; DENMARK; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLASTS; GENETIC HETEROGENEITY; GENETIC VARIATION; GENOTYPE; GTP PHOSPHOHYDROLASES; HUMANS; MALE; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 68049106373     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2009.04.024     Document Type: Article

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