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Article

Analysis of cDNA molecules is not suitable for the molecular diagnosis of Mucopolysaccharidosis type I.

Diagnostic molecular pathology : the American journal of surgical pathology, part B - 1 Mar 2012

Almeida Andresa Cardoso Grandini, Pasqualim Gabriela, Mayer Fabiana Q, Schwartz Ida Vanessa Doderlein, Souza Carolina F, Giugliani Roberto, Matte Ursula

Abstract excerpt

Nonsense-mediated decay (NMD) is a mechanism of the recognition and degradation of messenger RNA containing a premature stop codon. Nonsense mutations are the main mutations that lead to Mucopolysaccharidosis type I. To determine the effect of NMD on correct genotyping based on cDNA sequencing, we standardized the sequencing from alpha-L-iduronidase gene cDNA molecules and validated this process for a group of...

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PMID: 22306676
DOI: 10.1097/PDM.0b013e318230f021

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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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