Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype

Clinical Genetics

Volumn 75, Issue 5, 2009, Pages 485-489

  Smith, Bradley N ^a,h   Bevan, S ^b   Vance, C ^a   Renwick, P ^c   Wilkinson, P ^d,e   Proukakis, C ^e   Squitieri, F ^f   Berardelli, A ^g   Warner, T T ^e   Reid, E ^b   Shaw, C E ^a,c  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^c GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^d ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f IRCCS NEUROMED   (Italy)

^g SAPIENZA UNIVERSITY OF ROME   (Italy)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ATLASIN; GUANOSINE TRIPHOSPHATASE; LEUCINE; MEMBRANE PROTEIN; SPASTIN; UNCLASSIFIED DRUG;

ADULT; AGE DISTRIBUTION; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CELL MATURATION; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; EXON; FAMILIAL DISEASE; GENE FREQUENCY; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; GOLGI COMPLEX; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TRANSPORT VESICLE;

ADULT; AGE OF ONSET; AGED; EXONS; FEMALE; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 65449120711     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01184.x     Document Type: Article

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