Abetalipoproteinemia: two case reports and literature review

doi:10.1186/1750-1172-3-19

Orphanet Journal of Rare Diseases

Volume 3

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Pollex RL
Hegele RA

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Case Report

Abetalipoproteinemia: two case reports and literature review

Rola Zamel¹ , Razi Khan¹ , Rebecca L Pollex² and Robert A Hegele¹^,2

¹Department of Medicine and Biochemistry, University of Western Ontario, London, Ontario, Canada

²Robarts Research Institute, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada

author email corresponding author email

Orphanet Journal of Rare Diseases 2008, 3:19doi:10.1186/1750-1172-3-19


Published:	8 July 2008

Additional files

Additional file 1:

Reported MTP mutations and their clinical phenotypes. The data provided represent the reported MTP mutations in patients with ABL and the clinical findings of these patients.

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