Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis

Journal of Medical Genetics

Volumn 37, Issue 10, 2000, Pages 759-765

  Lindsey, J C ^a   Bushby, K M D ^a   Lusher, M E ^a   McDermott, C J ^b   White, K D ^c   Reid, E ^d   Rubinsztein, D C ^d   Bashir, R ^e   Hazan, J ^f   Shaw, P J ^b  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b ROYAL VICTORIA INFIRMARY   (United Kingdom)

^c ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^d ADDENBROOKE S HOSPITAL   (United Kingdom)

^e DURHAM UNIVERSITY   (United Kingdom)

^f KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Hereditary spastic paraparesis; Mutation; Recessive; Spastin

Indexed keywords

ADENOSINE TRIPHOSPHATASE; DNA; SPASTIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHROMOSOME 2P; CLINICAL ARTICLE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0033782943     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.10.759     Document Type: Article

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