Characterization of a novel α-mannosidosis-causing mutation and its use in leukocyte genotyping after bone marrow transplantation

Human Genetics

Volumn 104, Issue 1, 1999, Pages 106-107

  Riise, Hilde Monica Frostad ^a,b   Hansen, Gaute Martin ^a   Tollersrud, Ole Kristian ^a   Nilssen, Øivind ^b  

^a UNIVERSITY OF TROMSØ   (Norway)

^b UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA MANNOSIDASE; LYSOSOME ENZYME;

ARTICLE; BONE MARROW TRANSPLANTATION; CASE REPORT; GENE MUTATION; GENOTYPE; HOMOZYGOTE; HUMAN; HUMAN CELL; LEUKOCYTE; MANNOSIDOSIS; PATIENT MONITORING; PRIORITY JOURNAL;

EID: 0344609775     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050918     Document Type: Article

References (6)

1. Berg T, Riise HMF, Hansen GM, Malm D, Tranebjærg L, Tollersrud OK, Nilssen Ø (1999) Spectrum of mutations in α-mannosidosis. Am J Hum Genet (in press)
2. Chester MA, Lundblad A, Öckerman PA, Autio S (1982) α-mannosidosis. In: Durand P, O'Brian J (eds) Genetic errors of glycoprotein metabolism. Edi-Ermes, Milan, pp 89-120
3. Nilssen Ø, Berg T, Riise HMF, Ramachandran U, Evjen G, Hansen GM, Tranebjærg L, Tollersrud OK (1997) α-Mannosidosis: functional cloning of the lysosomal α-mannosidase cDNA and identification of a mutation in two affected siblings. Hum Mol Genet 6:717-726
4. Riise HMF, Berg T, Nilssen Ø, Romeo G, Tollersrud OK, Ceccherini I (1997) Genomic structure of the human lysosomal α-mannosidase gene (MANB). Genomics 42:200-207
5. Walkley SU, Thrall MA, Dobrenis K, Huang M, March PA, Siegel DA, Wurzelmann S (1994) Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease. Proc Natl Acad Sci USA 91:2970-2974
6. Wall DA, Grange DK, Goulding P, Daines M, Luisiri A, Kotogal S (1998) Bone marrow transplantation for the treatment of α-mannosidosis. J Pediatr 133:282-285