Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER...
Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions
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United States: National Academy of Sciences
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Language
English
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United States: National Academy of Sciences
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Lenz-Majewski syndrome (LMS) is a rare disease characterized by complex craniofacial, dental, cutaneous, and limb abnormalities combined with intellectual disability. Mutations in the PTDSS1 gene coding one of the phosphatidylserine (PS) synthase enzymes, PSS1, were described as causative in LMS patients. Such mutations render PSS1 insensitive to f...
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Full title
Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions
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TN_cdi_proquest_journals_1788717178
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1788717178
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ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.1525719113
