HIGHLIGHTS
- who: PHKA and collaborators from the Hunan University of Arts and Science, China have published the research work: Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases, in the Journal: (JOURNAL) of 22/04/2022
- what: In this study, by clinical and next-generation sequencing analysis of 12 patients with suspected GSDs, the authors aimed to give them molecular diagnosis of GSD and determine the spectrum of genetic analysis specific to the cohort . In the present study, 18 different heterozygous candidate mutations (9 novel and 9 reported) were identified in 12 Chinese . . .
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