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Internet Directory - Top : Health : Conditions and Diseases : Nutritional and Metabolic Disorders : Inherited : GRACILE Syndrome

Top : Health : Conditions and Diseases : Nutritional and Metabolic Disorders : Inherited : GRACILE Syndrome (5 web sites)
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Regional: Europe: Finland: Health: Conditions_and_Diseases
Health: Conditions_and_Diseases: Blood_Disorders: Hemochromatosis
 Related Web Pages

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.ncbi.nlm.nih.gov/pmc/articles/PMC378542/

Molecular Genetics of The Gracile Syndrome
Very detailed information in the form of a dissertation by Ilona Visapää.
http://ethesis.helsinki.fi/julkaisut/laa/haart/vk/visapaa/molecula.pdf

Online Mendelian Inheritance in Man
Details the state of knowledge of the genetics of Gracile Syndrome.
http://omim.org/entry/603358