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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 Taylor, Emeritus Professor Doug Turnbull

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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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