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Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.
J Neurol Neurosurg Psychiatry. 2005 Jul;76(7):1019-21. doi: 10.1136/jnnp.2004.046110.
J Neurol Neurosurg Psychiatry. 2005.
PMID: 15965218
Free PMC article.
A combined approach of mass spectrometry, molecular modeling, and site-directed mutagenesis highlights key structural features responsible for the thermostability of Sulfolobus solfataricus carboxypeptidase.
Sommaruga S, De Palma A, Mauri PL, Trisciani M, Basilico F, Martelli PL, Casadio R, Tortora P, Occhipinti E.
Sommaruga S, et al. Among authors: trisciani m.
Proteins. 2008 Jun;71(4):1843-52. doi: 10.1002/prot.21868.
Proteins. 2008.
PMID: 18175312
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