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 (1908–1989)

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. Kasnauskienframe0, L. Cimbalistienframe1, and V. Kuframe2inskas p. 1212  abstract

Molecular Genetic Characteristics of Duchenne–Becker 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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