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DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation in G6PC by Combination of Modified Competitive Oligonucleotide Priming-PCR and Melting Curve Analysis

Glycogen storage disease type Ia (GSDIa) is an autosomal recessive disorder caused by glucose-6-phosphatase (G6PC) deficiency. GSDIa causes not only life-threatening hypoglycemia in infancy, but also hepatocellular adenoma as a long-term complication. Hepatocellular adenoma may undergo malignant tra...

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Detalles Bibliográficos
Autores principales:	Niba, Emma Tabe Eko, Wijaya, Yogik Onky Silvana, Awano, Hiroyuki, Taniguchi, Naoko, Takeshima, Yasuhiro, Nishio, Hisahide, Shinohara, Masakazu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8628980/ https://www.ncbi.nlm.nih.gov/pubmed/34842616 http://dx.doi.org/10.3390/ijns7040079

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