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The Newcastle University research output collection, currently available on ePrints, will shortly be moving to a new open repository platform, Figshare. To prepare for the data migration we have paused adding new content to ePrints, and will resume once the new repository is launched. During this time you will continue to have access to ePrints (but no new content will appear). We will share updates here when available.

GRACILE syndrome is caused by a point mutation in BCS1L suggesting a new role of the BCS1L in iron metabolism

Lookup NU author(s): Dr Jane Hutton, Professor Robert TaylorORCiD, Emeritus Professor Doug Turnbull

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Publication metadata

Author(s): Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L

Publication type: Conference Proceedings (inc. Abstract)

Publication status: Published

Conference Name: American Journal of Human Genetics: 52nd Annual Meeting of the American Society of Human Genetics

Year of Conference: 2002

Pages: 209 abstract no. 231

ISSN: 0002-9297

Publisher: Cell Press

Library holdings: Search Newcastle University Library for this item

ISBN: 15376605

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