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Identification of a novel nonsense mutation (Q24X) in the glucose-6-phosphatase gene of a Portuguese patient with GSD Ia (von Gierke disease)

✍ Scribed by Hugo Rocha; Aguinaldo Cabral; Laura Vilarinho

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 11 KB
Volume: 16
Category: Article
ISSN: 1059-7794
DOI: 10.1002/1098-1004(200011)16:5<449::aid-humu25>3.0.co;2-l

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