Title:

GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation inBCS1L

Author:

Ilona Visapää,Vineta Fellman,Jouni Vesa,Ayan Dasvarma,Jenna L. Hutton,Vijay Kumar,Gregory S. Payne,Marja Makarow,Rudy Van Coster,Robert W. Taylor,Douglass M. Turnbull,Anu Suomalainen,Leena Peltonen

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

October 2002

Copyright © 2002, Elsevier

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