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Article

Functional splicing analysis in an infantile case of atypical hemolytic uremic syndrome caused by digenic mutations in C3 and MCP genes.

Journal of human genetics - 1 Jun 2018

Yamamura Tomohiko, Nozu Kandai, Ueda Hiroaki, Fujimaru Rika, Hisatomi Ryutaro, Yoshida Yoko, Kato Hideki, Nangaku Masaomi, Miyata Toshiyuki, Sawai Toshihiro, Minamikawa Shogo, Kaito Hiroshi, Matsuo Masafumi, Iijima Kazumoto

Abstract excerpt

Pathogenic variants in specific complement-related genes lead to atypical hemolytic uremic syndrome (aHUS). Some reports have indicated that patients with digenic variants in these genes might present severer phenotypes. Upon detecting novel intronic variants, transcriptional analysis is necessary to prove pathogenicity; however, when intronic variants are located in intron 1 and, as a result, no transcript is...

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PMID: 29556035
DOI: 10.1038/s10038-018-0436-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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