Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease.

Journal of medical genetics

Volumn 39, Issue 9, 2002, Pages

  Olsen, T R ^a   Tranebjaerg, L ^a   Kvittingen, E A ^a   Hagenfeldt, L ^a   Moller C ^a   Nilssen, O ^a  

^a UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

AMIDASE; ASPARTOACYLASE; DNA;

ADOLESCENT; ADULT; ARTICLE; CANAVAN DISEASE; CASE REPORT; CHEMISTRY; ENZYMOLOGY; FAMILY HEALTH; GENETICS; HUMAN; MALE; MISSENSE MUTATION; NORWAY; NUCLEOTIDE SEQUENCE; PATHOLOGY; SWEDEN;

ADOLESCENT; ADULT; AMIDOHYDROLASES; CANAVAN DISEASE; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; HUMANS; MALE; MUTATION, MISSENSE; NORWAY; SWEDEN;

EID: 0036730050     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.39.9.e55     Document Type: Article

References (0)