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Gracile Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L -
2002 paper by Visapää et al.
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=378542 Molecular Genetics of The Gracile Syndrome -
Very detailed information in the form of a dissertation by Ilona Visapää. [PDF]
http://www.ktl.fi/attachments/suomi/julkaisut/julkaisusarja_a/2002a28.pdf Online Mendelian Inheritance in Man -
Details the state of knowledge of the genetics of Gracile Syndrome.
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603358
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