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Identification of a mutation in the polycystin 1 gene in a patient with intracranial aneurysm

https://doi.org/10.25557/2073-7998.2020.05.79-80

Abstract

Intracranial aneurysm is a multifactorial connective tissue disease leading to spontaneous subarachnoid hemorrhages. It was identified undescribed heterozygous nucleotide sequence change of the PKD1 gene c.6847G>A in patient with subarachnoid hemorrhage with pathogenic significance.

About the Authors

R. I. Sultanova
Institute of Biochemistry and Genetics, Ufa Research Study Center
Russian Federation


E. K. Khusnutdinova
Institute of Biochemistry and Genetics, Ufa Research Study Center
Russian Federation


R. I. Khusainova
Institute of Biochemistry and Genetics, Ufa Research Study Center
Russian Federation


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For citations:


Sultanova R.I., Khusnutdinova E.K., Khusainova R.I. Identification of a mutation in the polycystin 1 gene in a patient with intracranial aneurysm. Medical Genetics. 2020;19(5):79-80. (In Russ.) https://doi.org/10.25557/2073-7998.2020.05.79-80

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ISSN 2073-7998 (Print)