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Sedoheptulokinase deficiency due to a 57-kb deletion in cyst…

Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose%3A elucidation of the CARKL gene.

Article, Chapter

Authors: M.M. Wamelink

Publication: Human Mutation, Volume:29, Issue:4, Page(s):532

Published: Wiley, 2008

ISSN: 1059-7794

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View Full Text Source:Human Mutation,Human Mutation,Wiley Online Library Database Model 2021 Opens in new Window

Journal: Human Mutation Source:Wiley Online Library Database Model 2021 Opens in new Window

Collection: Wiley Online Library Database Model 2021 Opens in new Window

Coverage:

1996~present; volume:7~present;issue:1~present

View Full Text Source:Human Mutation,Human Mutation,Wiley Online Library: Complete Journals Opens in new Window

Journal: Human Mutation Source:Wiley Online Library: Complete Journals Opens in new Window

Collection: Wiley Online Library: Complete Journals Opens in new Window

Coverage:

1996-01-01~present; volume:7~present;issue:1~present

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