Single‐nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene

BACKGROUND: β‐ketothiolase (T2, gene symbol ACAT1) deficiency is an autosomal recessive disorder, affecting isoleucine and ketone body metabolism. We encountered a patient (GK03) with T2 deficiency whose T2 mRNA level was <10% of the control, but in whom a previous routine cDNA analysis had faile...

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Detalles Bibliográficos
Autores principales: Sasai, Hideo, Aoyama, Yuka, Otsuka, Hiroki, Abdelkreem, Elsayed, Nakama, Mina, Hori, Tomohiro, Ohnishi, Hidenori, Turner, Lesley, Fukao, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370231/
https://www.ncbi.nlm.nih.gov/pubmed/28361105
http://dx.doi.org/10.1002/mgg3.275

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370231/
https://www.ncbi.nlm.nih.gov/pubmed/28361105
http://dx.doi.org/10.1002/mgg3.275

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