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protein-sorting apparatus

Saturday 3 June 2006

Pathology

- genetic diseases of intracellular-membrane transport

  • diseases affecting the protein-sorting apparatus
    • germline mutations of LMAN1 in combined deficiency of coagulation factors V and VIII

References

- Olkkonen VM, Ikonen E. Genetic defects of intracellular-membrane transport. N Engl J Med. 2000 Oct 12;343(15):1095-104. PMID: #11027745#