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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Am J Med Genet A
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley & Sons, Inc. 2021
Pynciau:
Original Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC8251549/
https://ncbi.nlm.nih.gov/pubmed/33973697
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.62226
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