Afanas'yeva N. Prevalence and clinical-genetic features of some monogenic diseases among children in The Crimean Autonomous Republic

Українська версія

Thesis for the degree of Candidate of Sciences (CSc)

State registration number

0499U002784

Thesis Registration Form

0499U002784.pdf

Applicant for

Specialization

  • 03.00.15 - Генетика

22-10-1999

Specialized Academic Board

Д 26.604.01

Essay

The Crimean population frequencies of fenylketonuria, spinal muscular atrophy, Duchenne muscular dystrophy are established at first. Different clinical forms of these diseases and their peculiarities in the Crimea are described. The molecular genetic analyses of Crimean patiens are obtained at first. Characterization of different clinical forms of patiens with different types of mutations of determinating genes is defined.

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