Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal <it>SAR1B </it>gene protein coding sequence

Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal <it>SAR1B </it>gene protein coding sequence

<p>Abstract</p> <p>Background</p> <p>Anderson's Disease (AD)/Chylomicron Retention Disease (CMRD) is a rare hereditary hypocholesterolemic disorder characterized by a malabsorption syndrome with steatorrhea, failure to thrive and the absence of chylomicrons and apo...

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Bibliographic Details
Main Authors: Okada Tomoo, Miyashita Michio, Fukuhara Junji, Sugitani Masahiko, Ueno Takahiro, Samson-Bouma Marie-Elisabeth, Aggerbeck Lawrence P
Format: Article
Language:English
Published: BMC 2011-11-01
Series:Orphanet Journal of Rare Diseases
Online Access:http://www.ojrd.com/content/6/1/78

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http://www.ojrd.com/content/6/1/78

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