Supplementary information : The gene encoding adipose triglyceride lipase (: : PNPLA2: : ) is mutated in neutral lipid storage disease with myopathy : Nature Genetics

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The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy

Judith Fischer, Caroline Lefèvre, Eva Morava, Jean-Marie Mussini, Pascal Laforêt, Anne Negre-Salvayre, Mark Lathrop & Robert Salvayre

Nature Genetics 39, 28 - 30 (2007)

doi:10.1038/ng1951

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Supplementary Fig. 1

Translated sequence of Homo sapiens ATGL.

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Supplementary Fig. 2

ATGL mutations in patient 1.

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Supplementary Fig. 3

ATGL mutations, continued.

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Supplementary Table 1

Comparison of phenotypes, metablic defects and mutations.

Supplementary Table 1 - Download PDF file (16KB)

Supplementary Table 2

Primer sequences.

Supplementary Table 2 - Download PDF file (12KB)

Supplementary Methods

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Supplementary Note

Supplementary Note - Download PDF file (60KB)

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Supplementary information