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Human Molecular Genetics, Vol. 12, Iss. 22, 2003-11 ,pp. : 3017-3024

Oxford University Press

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Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations ( CCM1 )

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Human Molecular Genetics, Vol. 8, Iss. 12, 1999-11 ,pp. : 2325-2333

Oxford University Press

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Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

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Human Molecular Genetics, Vol. 12, Iss. 5, 2003-03 ,pp. : 463-471

Oxford University Press

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Characterization of Missense Mutations in the SUP45 Gene of Saccharomyces cerevisiae Encoding Translation Termination Factor eRF1*

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MAIK Nauka/Interperiodica

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Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

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