A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2

European Journal of Human Genetics

Volumn 8, Issue 10, 2000, Pages 777-782

  Lo Nigro, Cristiana ^a   Cusano, Roberto ^a   Scaranari, Monica ^a   Cinti, Roberta ^a   Forabosco, Paola ^a   Morra, Vincenzo Brescia ^b   De Michele, Giuseppe ^b   Santoro, Lucio ^b   Davies, Sally ^c   Hurst, Jane ^d   Devoto, Marcella ^e   Ravazzolo, Roberto ^a,e   Seri, Marco ^a  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^d OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^e UNIVERSITY OF GENOA   (Italy)

Author keywords

Complicated spastic paraplegia; Linkage analysis; SPG9; Transcriptional map

Indexed keywords

METALLOPROTEINASE; MUSCLE PROTEIN; PARAPLEGIN; SPASTIN; SPG9 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 10Q; CLINICAL FEATURE; CONGENITAL CATARACT; CORNEA DYSTROPHY; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FAMILY HISTORY; FOCAL EPILEPSY; GENE LOCUS; GENE MAPPING; GENE SEGREGATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; ITALY; LEG; MARKER GENE; MUSCLE BIOPSY; OPHTHALMOPLEGIA; PATHOGENESIS; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; RACE DIFFERENCE; SPASTICITY; SYMPTOM; TRINUCLEOTIDE REPEAT; UNITED KINGDOM; YEAST ARTIFICIAL CHROMOSOME;

BIOPSY; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; CONTIG MAPPING; EXPRESSED SEQUENCE TAGS; FEMALE; GENOTYPE; HUMANS; MALE; MICROSATELLITE REPEATS; MUSCLES; PEDIGREE; PHYSICAL CHROMOSOME MAPPING; SEQUENCE ANALYSIS, DNA; SPASTIC PARAPLEGIA, HEREDITARY; TRINUCLEOTIDE REPEATS;

EID: 0033776571     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200546     Document Type: Article

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