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Bychkova A.M., Maliarchuk S.G., Livshits L.A.
A clinical and molecular genetic analysis of the fragile X syndrome
TSitologiia i genetika 1999, v 33, Issue 4, 70-76
Results of phenotypical, patho-psychological and molecular-genetic analysis of the 53 probands with clinical features of the fragile X syndrome and 10 female carriers are presented. The clinical heterogeneity, diagnostic criteria, methods of genetic risk estimation, perspectives of prevention of this disease are discussed.
Bychkova A.M., Maliarchuk S.G., Livshits L.A. A clinical and molecular genetic analysis of the fragile X syndrome // Tsitol Genet. – 1999. – 33(4). – P. 70-76.
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