Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin-Reference-Cited by-同舟云学术

Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin

Published:1997-08 Issue:4 Volume:20 Page:587-594
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Kleijer W. J.¹,Keulemans J. L. M.¹,van der Kraan M.¹,Geilen G. G.¹,van der Helm R. M.¹,Rafi M. A.²,Luzi P.²,Wenger D. A.²,Halley D. J. J.²,van Diggelen O. P.¹

Affiliation:

1. ; Department of Clinical Genetics, University Hospital; Erasmus University; Rotterdam The Netherlands

2. ; Departments of Medicine (Medical Genetics) and Biochemistry and Molecular Biology; Jefferson Medical College; Philadelphia Pennsylvania USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005315311165/fullpdf

Reference14 articles.

1. Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy;Chen;Hum Mol Genet,1993

2. Two mutations affecting the transport and maturation of lysosomal α-glucosidase in an adult case of glycogenosis type II;Hermans;Hum Mutat,1993

3. The use of cultured skin fibroblasts for heterozygote detection: results for some lysosomal storage diseases;Kleijer;Clin Genet,1983

4. First-trimester diagnosis of Krabbe's disease by direct enzyme analysis of chorionic villi;Kleijer;N Engl J Med,1984

5. Late-onset globoid cell leucodystrophy (Krabbe's disease). Clinical and genetic delineation of two forms and their relation to the early-infantile form;Loonen;Neuropediatrics,1985

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