Contents
Russian Journal of Genetics
Vol. 44, No. 10, 2008
Simultaneous English language translation of the journal is available from Pleiades Publishing, Inc.
Distributed worldwide by Springer. Russian Journal of Genetics ISSN 1022-7954.
To the 100th Anniversary of Vladimir Pavlovich Efroimson (19081989)
p. 1127
Reviews and Theoretical Articles
Monogenic Hypercholesterolemias: New Genes, New Drug Targets
M. Y. Mandelshtam and V. B. Vasilyev p. 1134 abstract
Hereditary Diseases among Yakuts
V. P. Puzyrev and N. P. Maximova p. 1141 abstract
Molecular Genetic Basis of Proximal Spinal Muscular Atrophy and Experience
in Its Pharmaceutical Treatment
V. S. Baranov, A. V. Kiselev, V. G. Vakharlovsky,
G. Ju. Zheleznjakova, V. N. Komantzev, O. V. Malisheva,
A. S. Glotov, T. E. Ivashchenko, and A. N. Baranov p. 1148 abstract
Adipokine Genetics: Unbalanced Protein Secretion by Human Adipose Tissue
as a Cause of the Metabolic Syndrome
A. V. Baranova p. 1160 abstract
Epimutations of Imprinted Genes in the Human Genome: Classification,
Causes, Association with Hereditary Pathology
I. N. Lebedev and E. A. Sazhenova p. 1176 abstract
Experimental Articles
The Spectrum of Mutations in the Low-Density Lipoprotein Receptor
Gene in the Russian Population
M. I. Voevoda, I. V. Kulikov, E. V. Shakhtshneider,
V. N. Maksimov, I. V. Pilipenko, I. P. Tereschenko,
V. F. Kobzev, A. G. Romaschenko, and Yu. P. Nikitin p. 1191 abstract
From Clinical and Biochemical to Molecular Genetic Diagnosis
of Wilson Disease in Latvia
A. Krumina, J. Keiss, V. Sondore, A. Chernushenko,
G. Cernevska, A. Zarina, I. Micule, L. Piekuse, M. Kreile,
B. Lace, Z. Krumina, and B. Rozentale p. 1195 abstract
Spectrum and Frequency of Mutations in the Connexin 32 Gene (GJB1)
in Hereditary and Sensory Neuropathy type 1X Patients from Bashkortostan
I. M. Khidiyatova, E. G. Bagautdinova, D. V. Galieva,
N. B. Krupina, O. A. Shchagina, T. B. Tiburkova,
R. V. Magzhanov, A. V. Polyakov, and E. K. Khusnutdinova p. 1201 abstract
TGFBI Gene Mutations in the Ukrainian Patients with Inherited
Corneal Stromal Dystrophies
V. N. Pampukha, S. A. Kravchenko, F. Tereshchenko,
G. I. Drozhzhina, and L. A. Livshits p. 1208 abstract
Predicting a Clinical/Biochemical Phenotype for PKU/MHP Patients
with PAH Gene Mutations
J. Kasnauskien, L. Cimbalistien
, and V. Ku
inskas p. 1212 abstract
Molecular Genetic Characteristics of DuchenneBecker Muscular
Dystrophy in the Republic of Moldova
V. Sacare p. 1219 abstract
Genetic Diversity and the Structure of Linkage Disequilibrium
in the Methylenetetrahydrofolate Reductase Locus
E. A. Trifonova, M. G. Spiridonova, and V. A. Stepanov p. 1224 abstract
Mutational Spectrum of the Gene for 21-Hydroxylase in the Patients
with Congenital Adrenal Hyperplasia from Bashkortostan
V. L. Akhmetova, Z. F. Ramova, O. A. Malievsky, and E. K. Khusnutdinova p. 1233 abstract
Glutathione-S-Transferase Gene Polymorphism in Russian
Populations of European Part of Russia
A. V. Khrunin, D. V. Khokhrin, and S. A. Limborska p. 1241 abstract
Brief Communications
Independent Origin of Rare Y168H Mutation of Human Phenylalanine
Hydroxylase Gene in Russia
E. V. Brenner, F. O. Smagulova, and I. V. Morozov p. 1246 abstract
ERRATA
Erratum: Molecular Analysis of Some Genes from Plasmid p19 of the Bacillus subtilis 19
Soil Strain Involved in Conjugation [Russian Journal of Genetics 44 (5), 539 (2008)]
E. U. Poluektova, E. Yu. Gagarina, I. P. Shilovskii, E. A. Fedorina,
V. Z. Nezametdinova, S. A. Rodionova and A. A. Prozorov p. 1249
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