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| 2001 | 1 |
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Characterization of an adapter subunit to a phosphatidylinositol (3)P 3-phosphatase: identification of a myotubularin-related protein lacking catalytic activity.
Proc Natl Acad Sci U S A. 2001 Aug 14;98(17):9499-504. doi: 10.1073/pnas.171306098.
Proc Natl Acad Sci U S A. 2001.
PMID: 11504939
Free PMC article.
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
Azzedine H, Bolino A, Taïeb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E.
Azzedine H, et al.
Am J Hum Genet. 2003 May;72(5):1141-53. doi: 10.1086/375034. Epub 2003 Apr 8.
Am J Hum Genet. 2003.
PMID: 12687498
Free PMC article.
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