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

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Year: 2006
Type: article
Source: Nature Genetics
DOI: 10.1038/ng1951
Authors: Judith Fischer, Caroline Lefèvre, Eva Morava, Jean-Marie Mussini, Pascal Laforêt, Anne Negre-Salvayre, Mark Lathrop, Robert Salvayre
Institutions: Centre National de Recherche en Génomique Humaine, Radboud University Medical Center, Centre Hospitalier Universitaire de Nantes, Assistance Publique – Hôpitaux de Paris, Institut de Myologie, Pitié-Salpêtrière Hospital, Université Toulouse III - Paul Sabatier, Inserm
Language: English

Topic: Lipid metabolism and biosynthesis
Subfield: Biochemistry
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed

Funder: Institut National de la Santé et de la Recherche Médicale
OpenAlex ID: W2029318573
FWCI: 8.171
Cites: 16
Cited by: 472
Related to: 10
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