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

DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation in <i>G6PC</i> 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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Bibliographic Details
Main Authors: Emma Tabe Eko Niba, Yogik Onky Silvana Wijaya, Hiroyuki Awano, Naoko Taniguchi, Yasuhiro Takeshima, Hisahide Nishio, Masakazu Shinohara
Format: Article
Language:English
Published: MDPI AG 2021-11-01
Series:International Journal of Neonatal Screening
Subjects:
glycogen storage disease type 1a
dried blood spot
allele-specific PCR
mCOP-PCR
melting curve
Online Access:https://www.mdpi.com/2409-515X/7/4/79

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