Recurrent NFIA K125E substitution represents a loss‐of‐function allele: Sensitive in vitro and in vivo assays for nontruncating alleles

Nuclear factor I A (NFIA) is a transcription factor that belongs to the NFI family. Truncating variants or intragenic deletion of the NFIA gene are known to cause the human neurodevelopmental disorder known as NFIA‐related disorder, but no patient heterozygous for a missense mutation has been report...

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Detalles Bibliográficos
Autores principales: Uehara, Tomoko, Sanuki, Rikako, Ogura, Yurie, Yokoyama, Atsushi, Yoshida, Takeshi, Futagawa, Hiroshi, Yoshihashi, Hiroshi, Yamada, Mamiko, Suzuki, Hisato, Takenouchi, Toshiki, Matsubara, Kohei, Hirata, Hiromi, Kosaki, Kenjiro, Takano‐Shimizu, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8251549/
https://www.ncbi.nlm.nih.gov/pubmed/33973697
http://dx.doi.org/10.1002/ajmg.a.62226

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8251549/
https://www.ncbi.nlm.nih.gov/pubmed/33973697
http://dx.doi.org/10.1002/ajmg.a.62226

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