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First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population.
Mov Disord. 2007 Apr 30;22(6):884-8. doi: 10.1002/mds.21391.
Mov Disord. 2007.
PMID: 17290457
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
Frédéric MY, Monino C, Marschall C, Hamroun D, Faivre L, Jondeau G, Klein HG, Neumann L, Gautier E, Binquet C, Maslen C, Godfrey M, Gupta P, Milewicz D, Boileau C, Claustres M, Béroud C, Collod-Béroud G.
Frédéric MY, et al. Among authors: monino c.
Hum Mutat. 2009 Feb;30(2):181-90. doi: 10.1002/humu.20794.
Hum Mutat. 2009.
PMID: 18767143
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