A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the α-fucosidase gene

Journal of Inherited Metabolic Disease

Volumn 21, Issue 6, 1998, Pages 688-689

  Fleming, C J ^a   Sinclair, D U ^b   White, E J ^c   Winchester, B ^c   Whiteford, M L ^d   Connor, J M ^d  

^a GLASGOW ROYAL INFIRMARY   (United Kingdom)

^b Royal Scottish National Hospital   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d UNIVERSITY OF GLASGOW   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA LEVO FUCOSIDASE;

ADULT; ARTICLE; CASE REPORT; EXON; FEMALE; FUCOSIDOSIS; HUMAN; LONGEVITY; MISSENSE MUTATION;

ALPHA-L-FUCOSIDASE; EXONS; FEMALE; FUCOSIDOSIS; HUMANS; LONGEVITY; MIDDLE AGED; MUTATION, MISSENSE;

EID: 0031782187     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005405222252     Document Type: Article

References (3)

1. Cragg H, Williamson M, Young E, et al (1997) Fucosidosis: genetic and biochemical analysis of eight cases. J Med Genet 34: 105-110.
2. Primrose DA (1975) A note on fucosidosis in a mentally subnormal female. J Ment Defic Res 19: 267.
3. Willems PJ, Gatti R, Darby JK, et al (1991) Fucosidosis revisited: a review of 77 patients. Am J Med Genet 38: 111-131.