Renal transplantations from parents to siblings with autosomal recessive Alport syndrome caused by a rearrangement in an intronic antisense Alu element in the COL4A3 gene led to different outcomes

Two siblings with autosomal recessive Alport syndrome (ARAS) obtained renal transplants from their consanguineous parents. Their COL4A3 mRNA transcripts were disrupted by a 139 bp intronic sequence between exon 48 and 49, which was derived from an antisense Alu element in this intron. The new amino...

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Detalhes bibliográficos
Publicado no:CEN Case Rep
Main Authors: Kaimori, Jun-ya, Ichimaru, Naotsugu, Isaka, Yoshitaka, Hashimoto, Fusako, Fu, Xuejun, Hashimura, Yuya, Kaito, Hiroshi, Iijima, Kazumoto, Kyo, Masahiro, Namba, Tomoko, Obi, Yoshitsugu, Hatanaka, Masaki, Matsui, Isao, Takabatake, Yoshitsugu, Okumi, Masayoshi, Yazawa, Koji, Nonomura, Norio, Rakugi, Hiromi, Takahara, Shiro
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Japan 2012
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5413733/
https://ncbi.nlm.nih.gov/pubmed/28509228
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-012-0049-7
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