Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene

BACKGROUND AND OBJECTIVES: The evident genotype–phenotype correlation shown by the X-linked Alport syndrome warrants the assessment of the impact of identified gene variants on aberrant splicing. We previously reported that single nucleotide variants (SNVs) in the last nucleotide of exons in COL4A5...

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Detalles Bibliográficos
Autores principales: Okada, Eri, Aoto, Yuya, Horinouchi, Tomoko, Yamamura, Tomohiko, Ichikawa, Yuta, Tanaka, Yu, Ueda, Chika, Kitakado, Hideaki, Kondo, Atsushi, Sakakibara, Nana, Suzuki, Ryota, Usui, Joichi, Yamagata, Kunihiro, Iijima, Kazumoto, Nozu, Kandai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Nature Singapore 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9950164/
https://www.ncbi.nlm.nih.gov/pubmed/36371577
http://dx.doi.org/10.1007/s10157-022-02294-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9950164/
https://www.ncbi.nlm.nih.gov/pubmed/36371577
http://dx.doi.org/10.1007/s10157-022-02294-x

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