European Journal of Human Genetics - Clinical utility gene card for: Abetalipoproteinaemia

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European Journal of Human Genetics - Clinical utility gene card for: Abetalipoproteinaemia

Clinical Utility Gene Card

European Journal of Human Genetics advance online publication 29 February 2012; doi: 10.1038/ejhg.2012.30

Clinical utility gene card for: Abetalipoproteinaemia

John R Burnett^1,2,3, Damon A Bell^1,2, Amanda J Hooper^1,2,3 and Robert A Hegele⁴

1. ¹Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital, Perth, Western Australia, Australia
2. ²School of Medicine & Pharmacology, University of Western Australia, Perth, Western Australia, Australia
3. ³School of Pathology & Laboratory Medicine, University of Western Australia, Perth, Western Australia, Australia
4. ⁴Vascular Biology Research Group, Robarts Research Institute, London, Ontario, Canada

Correspondence: Dr RA Hegele, Robarts Research Institute, 100 Perth Drive, London, Ontario, Canada N6A 5K8. Tel: +1 519 931 5271; Fax: +1 519 931 5228; E-mail: hegele@robarts.ca

1. DISEASE CHARACTERISTICS

1.1 Name of the disease (synonyms)

Abetalipoproteinaemia (Bassen–Kornzweig syndrome).

1.2 OMIM# of the disease

200100.

1.3 Name of the analysed genes or DNA/chromosome segments

MTTP.

1.4 OMIM# of the gene(s)

157147.