Next-Generation Sequencing-Based Preimplantation Genetic Testing for De Novo NF1 Mutations
Next-Generation Sequencing-Based Preimplantation Genetic Testing for De Novo NF1 Mutations
About this item
Full title
Author / Creator
Chen, Dongjia , Shen, Xiaoting , Xu, Yan , Cai, Bing , Ding, Chenhui , Zhong, Yiping , Xu, Yanwen and Zhou, Canquan
Publisher
Seoul: The Korean BioChip Society (KBCS)
Journal title
Language
English
Formats
Publication information
Publisher
Seoul: The Korean BioChip Society (KBCS)
Subjects
More information
Scope and Contents
Contents
Neurofibroma type 1 (NFI) is an autosomal dominant genetic disease associated with cancer and cognitive dysfunction. The 50% de novo mutation rate and numerous mutation types of the
NF1
gene pose challenges to preimplantation genetic testing (PGT) for NFI. In 2020, a couple was subjected to next-generation sequencing (NGS)-based PGT at our ce...
Alternative Titles
Full title
Next-Generation Sequencing-Based Preimplantation Genetic Testing for De Novo NF1 Mutations
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_nrf_kci_oai_kci_go_kr_ARTI_9763981
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_nrf_kci_oai_kci_go_kr_ARTI_9763981
Other Identifiers
ISSN
1976-0280
E-ISSN
2092-7843
DOI
10.1007/s13206-021-00006-3
