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Article

Double synonymous mutations in exon 9 of the Cullin3 gene restore exon inclusion by abolishing hnRNPs inhibition.

Human molecular genetics - 28 Nov 2022

Liu Zhiying, Sui Aihua, Wang Sai, Cui Li, Xin Qing, Zhang Ruixiao, Han Yue, Shao Leping, Zhao Xiangzhong

Abstract excerpt

All mutations in exon 9 of the Cullin3 gene associated with pseudohypoaldosteronism type II (PHA II) contribute to exon skipping to different degrees, but the specific molecular mechanism of this aberrant splicing is still unclear. The aims of this study were to investigate the regulatory mechanism underlying two synonymous splicing events, c.1221A > G (p. Glu407Glu) and c.1236G > A (p. Leu412Leu), and to...

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Identifiers

PMID: 35796549
DOI: 10.1093/hmg/ddac148

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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