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Article

Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.

American journal of medical genetics. Part A - 15 Dec 2007

Furniss Dominic, Critchley Paul, Giele Henk, Wilkie Andrew O M

Abstract excerpt

Mutations in SALL1 and GLI3 are responsible for human limb malformation syndromes. The molecular pathophysiology of these mutations is incompletely understood, and many conclusions have been drawn from studies performed in the mouse. We identified truncating mutations in SALL1 and GLI3 in patients with limb malformation and studied the contribution of nonsense-mediated decay (NMD) to the expression of mutant mRNA...

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Source

Identifiers

PMID: 18000979
DOI: 10.1002/ajmg.a.32097

Genes

SALL1
GLI3

Provenance

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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