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Article

Identification of a MIP mutation that activates a cryptic acceptor splice site in the 3' untranslated region.

Molecular vision - 2 Nov 2010

Jin Chongfei, Jiang Jin, Wang Wei, Yao Ke

Abstract excerpt

PURPOSE: To investigate the consequence of a major intrinsic protein MIP splice-site mutation (c.607-1G>A) in a four-generation Chinese pedigree afflicted with autosomal dominant congenital cataracts (ADCC). METHODS: Both a mutated minigene with c.607-1G>A, and a wild-type minigene were construct...

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Source

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Identifiers

PMID: 21139677
PMCID: PMC2994330

Genes

MIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21139677-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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