Hereditary spastic paraplegia: Identification of an SPG3A gene mutation in a Chinese family

Hong Kong Medical Journal

Volumn 15, Issue 4, 2009, Pages 304-307

  Chan, K Y ^a   Ching, C K ^a   Mak, Chloe M ^a   Lam, C W ^b   Chan, Albert Y W ^a  

^a PRINCESS MARGARET HOSPITAL   (Hong Kong)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

DNA mutational analysis; Genes, dominant; Mutation, missense; Neurodegenerative diseases; Spastic paraplegia, hereditary

Indexed keywords

GENOMIC DNA; GUANOSINE TRIPHOSPHATASE; SPG3A PROTEIN, HUMAN;

ARTICLE; ATAXIA; AUTOSOMAL DOMINANT INHERITANCE; BRAIN ATROPHY; CASE REPORT; CEREBELLUM; CHILD; CHINESE; CORPUS CALLOSUM; DISEASE CLASSIFICATION; DNA SEQUENCE; EARLY DIAGNOSIS; FAMILIAL DISEASE; FAMILY STUDY; GENE; GENE MUTATION; GENETIC DISORDER; HUMAN; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; SPASTIC PARAPLEGIA; SPASTICITY; SPG3A GENE; CHINA; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE; PHENOTYPE;

AGE OF ONSET; CHILD; CHINA; DNA MUTATIONAL ANALYSIS; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 70349432296     PISSN: 10242708     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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