Lysosomal transport disorders-Reference-Cited by-同舟云学术

Lysosomal transport disorders

Published:2000-05 Issue:3 Volume:23 Page:278-292
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Mancini G. M. S.¹,Havelaar A. C.¹,Verheijen F. W.¹

Affiliation:

1. ; Department of Clinical Genetics; Erasmus University; PO Box 1738 Rotterdam 3000 Dr The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005640214408/fullpdf

Reference89 articles.

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2. Identification and detection of the common65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS);Anikster;Mol Genet Metab,1999

3. A novel carbohydrate-kinase gene onchromosome 17p13 contiguous with CTNS is homozygously deleted in approximately halfthe patients with nephropathic cystinosis;Anikster;Am J Hum Genet,1999

4. Severity of phenotype in cystinosis varies withmutations in the CTNS gene: predicted e.ect on the model of cystinosin;Attard;Hum Mol Genet,1999

5. Salla diseaseÏ A new lysosomal storage disorder;Aula;Arch Neurol,1979

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