|
Volumn 35, Issue 9, 2014, Pages 1453-1455
|
Novel splice site mutation of SPG4 in a Chinese family with hereditary spastic paraplegia
|
Author keywords
Hereditary spastic paraplegia; Mutation; Spastin gene
|
Indexed keywords
GENOMIC DNA;
SPASTIN;
ADENOSINE TRIPHOSPHATASE;
SPAST PROTEIN, HUMAN;
ADULT;
AUTOSOMAL DOMINANT INHERITANCE;
CHINESE;
CLINICAL ARTICLE;
FAMILY STUDY;
FEMALE;
GENE MUTATION;
HEREDITARY MOTOR SENSORY NEUROPATHY;
HUMAN;
LETTER;
ONSET AGE;
PEDIGREE ANALYSIS;
POLYMERASE CHAIN REACTION;
RNA SPLICING;
SINGLE STRAND CONFORMATION POLYMORPHISM;
AGED;
ASIAN CONTINENTAL ANCESTRY GROUP;
ETHNOLOGY;
FAMILY HEALTH;
GENETICS;
MALE;
MIDDLE AGED;
MUTATION;
NUCLEOTIDE SEQUENCE;
ADENOSINE TRIPHOSPHATASES;
ADULT;
AGED;
ASIAN CONTINENTAL ANCESTRY GROUP;
DNA MUTATIONAL ANALYSIS;
FAMILY HEALTH;
FEMALE;
HUMANS;
MALE;
MIDDLE AGED;
MUTATION;
SPASTIC PARAPLEGIA, HEREDITARY;
|
EID: 84908356733
PISSN: 15901874
EISSN: 15903478
Source Type: Journal
DOI: 10.1007/s10072-014-1727-3 Document Type: Letter |
Times cited : (1)
|
References (4)
|