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GRACILE Syndrome

Health > Conditions and Diseases > Nutrition and Metabolism Disorders > Inherited > GRACILE Syndrome

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

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