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Figure 4 | Orphanet Journal of Rare Diseases

Figure 4

From: Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers

Figure 4

Mutations of SAR1B gene as described in the literature. Encoding exons are in grey colour. The nomenclature used is the same as that reported by Jones et al. [8] Sequences of SAR1B gene (NC_000005, gi: 51511721) and mRNA (NM_016103, gi: 38176155) are available on GenBanck (http://www.ncbi.nlm.nih.gov). Only predicted consequences of mutations are presented; mutations from 5' to 3' are: c.1-4482_58 + 1406del5946ins15pb, c.32G > A, c.83-84 delTG, c.109G > A, c.224A > G, c.349-1G > C, c.364G > T, c.409G > A, c.499G > T, c.536G > T, c.537T > A, c.542T > C, c.554G > T, c.555-558dupTTAC

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172