A novel FUCA1 mutation causing fucosidosis in a Chinese boy

Journal of Inherited Metabolic Disease

Volumn 25, Issue 5, 2002, Pages 415-416

  Ip, P ^a   Hgoh, W ^a   Chan, K W ^a   Cheung, P T ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA LEVO FUCOSIDASE; COMPLEMENTARY DNA; RECOMBINANT ENZYME;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE MARROW TRANSPLANTATION; BRAIN RADIOGRAPHY; CASE REPORT; CHINESE; ELECTROENCEPHALOGRAPHY; ENZYME ACTIVITY; FUCOSIDOSIS; GENE DELETION; GENETIC POLYMORPHISM; HUMAN; LYSOSOME STORAGE DISEASE; MALE; MUTATIONAL ANALYSIS; NERVE CONDUCTION; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; POINT MUTATION; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; URINALYSIS;

ALPHA-L-FUCOSIDASE; BASE SEQUENCE; CHILD; CODON, NONSENSE; FUCOSIDOSIS; HUMANS; MALE; POLYMERASE CHAIN REACTION;

EID: 0036746752     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1020116220624     Document Type: Article

References (3)

1. Fleming CJ, Sinclair DU, White EJ, et al (1998) A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase gene. J Inherit Metab Dis 21: 688-689.
2. Inui K, Akagi M, Nishigaki T, et al (2000) A case of chronic infantile type of fucosidosis: clinical and magnetic resonance image findings. Brain Dev 22: 47-49.
3. Willems PJ, Seo HC, Coucke P, et al (1999) Spectrum of mutations in fucosidosis. Eur J Hum Genet 7: 60-67.