Identification of a novel nonsense mutation (Q24X) in the glucose-6-phosphatase gene of a Portuguese patient with GSD Ia (von Gierke disease)期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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

Authors:	Rocha H Cabral A Vilarinho L

Affiliation:	Unidade de Biologia Clínica do Instituto de Genética Médica Jacinto de Magalh?es, Porto, Portugal. hugo.rocha@igmjm.pt

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