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Molecular Medicine Peer-reviewed scientific journal

Found: 2

ОРИГИНАЛЬНОЕ ИССЛЕДОВАНИЕ2018

MOLECULAR GENETIC ASPECTS OF THE RISK FOR FAMILY ADENOMATOUS POLYPOSIS

Introduction. The origin of the genetic predisposition to family adenomatous polyposis is associated with functional disorders of the repair system. The molecular mechanism of this phenomenon is not sufficiently studied and need clarification. The aim of the s…

10.29296/24999490-2018-06-11Details ↗
Research article2014

THE PROBLEMS OF RETT SYNDROME DIAGNOSIS IN GIRLS WITHOUT A MUTATION IN THE MEСP2 GENE: APPLICATION OF MOLECULAR KARYOTYPING

Introduction. Rett syndrome (RTT) is the most common genetic syndrome underlying mental retardation and autism in girls. Etiology of this disorder is related to mutation in the MECP2 gene. However, there are many cases of this disease without the MECP2 mutatio…

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