A novel insertion mutation in spastin gene is the cause of spastic paraplegia in a Chinese family

Journal of the Neurological Sciences

Volumn 210, Issue 1-2, 2003, Pages 35-39

  Qin, Wei ^a,b   Zhang, Tao ^c   Han, Ju ^c   Tang, LiQun ^d   Li, XingWang ^a,b   Feng, GuoYin ^a,b   Liu, WanQing ^a,b   He, Lin ^a,b  

^a INSTITUTE OF GEOLOGY AND GEOPHYSICS   (China)

^b SHANGHAI JIAO TONG UNIVERSITY   (China)

^c THE FIRST AFFILIATED HOSPITAL OF SHANDONG FIRST MEDICAL UNIVERSITY   (China)

^d Heze Medical Technology Academy   (China)

Author keywords

Haploinsufficiency; Insert mutation; Spastic paraplegia; Spastin; SPG4

Indexed keywords

ADENINE; PROTEIN; SPASTIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHINESE; CHROMOSOME 2; CLINICAL ARTICLE; EXON; FAMILIAL DISEASE; FEMALE; GENE CASSETTE; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC STRAIN; HUMAN; LINKAGE ANALYSIS; MALE; PEDIGREE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN FUNCTION; PROTEIN SYNTHESIS; RNA TRANSLATION; SPASTIC PARAPLEGIA;

EID: 0037962973     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(03)00011-X     Document Type: Article

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