KFU. Card publication. Novel HexA splice site mutations in a patient with late atypical onset Tay-Sachs disease: importance of combined NGS and biochemical analysis

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NOVEL HEXA SPLICE SITE MUTATIONS IN A PATIENT WITH LATE ATYPICAL ONSET TAY-SACHS DISEASE: IMPORTANCE OF COMBINED NGS AND BIOCHEMICAL ANALYSIS

Form of presentation

Articles in international journals and collections

Year of publication

2024

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Authors, employees of KFU

Bilyalov Ayrat Ildarovich, author

Bilyalova Alina Ayratovna, author

Gusev Oleg Aleksandrovich, author

Shagimardanova Elena Ilyasovna, author

Bibliographic description in the original language

Bilyalova, A., Shagimardanova, E., Bilyalov, A., Zaripova, M., Shigapova, L., Gazizova, G., Mazin, P., Tatiana, B., & Gusev, O. (2024). Novel HexA splice site mutations in a patient with late atypical onset Tay-Sachs disease: importance of combined NGS and biochemical analysis. Frontiers in neurology, 15, 1400989.

Keywords

Tay-Sachs disease, hexA gene, next-generation sequencing, neurology, RNA

The name of the journal

FRONTIERS IN NEUROLOGY

URL

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85207033936&doi=10.3389%2ffneur.2024.1400989&partnerID=40&md5=9cb5746562d743646e360221889e0b86

Please use this ID to quote from or refer to the card

https://repository.kpfu.ru/eng/?p_id=306071&p_lang=2

Full metadata record

Field DC	Value	Language
dc.contributor.author	Bilyalov Ayrat Ildarovich	ru_RU
dc.contributor.author	Bilyalova Alina Ayratovna	ru_RU
dc.contributor.author	Gusev Oleg Aleksandrovich	ru_RU
dc.contributor.author	Shagimardanova Elena Ilyasovna	ru_RU
dc.date.accessioned	2024-01-01T00:00:00Z	ru_RU
dc.date.available	2024-01-01T00:00:00Z	ru_RU
dc.date.issued	2024	ru_RU
dc.identifier.citation	Bilyalova, A., Shagimardanova, E., Bilyalov, A., Zaripova, M., Shigapova, L., Gazizova, G., Mazin, P., Tatiana, B., & Gusev, O. (2024). Novel HexA splice site mutations in a patient with late atypical onset Tay-Sachs disease: importance of combined NGS and biochemical analysis. Frontiers in neurology, 15, 1400989.	ru_RU
dc.identifier.uri	https://repository.kpfu.ru/eng/?p_id=306071&p_lang=2	ru_RU
dc.description.abstract	FRONTIERS IN NEUROLOGY	ru_RU
dc.language.iso	ru	ru_RU
dc.subject	Tay-Sachs disease	ru_RU
dc.subject	hexA gene	ru_RU
dc.subject	next-generation sequencing	ru_RU
dc.subject	neurology	ru_RU
dc.subject	RNA	ru_RU
dc.title	Novel HexA splice site mutations in a patient with late atypical onset Tay-Sachs disease: importance of combined NGS and biochemical analysis	ru_RU
dc.type	Articles in international journals and collections	ru_RU