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Article

Molecular genetics of glycogen-storage disease type 1a in Chinese patients of Taiwan.

Molecular genetics and metabolism - 1 Feb 2001

Wong L J, Hwu W L, Dai P, Chen T J

Abstract excerpt

The mutation spectrum of the glucose 6-phosphatase (G6Pase) gene in Chinese patients with type 1a glycogen-storage disease of Taiwan was studied by PCR/RFLP, temporal temperature gradient gel electrophoresis, and direct DNA sequencing methods. In addition to the two most prevalent mutations, 727G --> T (44.4%) and R83H (36.1%), that were detected by RFLP analysis, five other mutations, 341delG, 933insAA, Q104X,...

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Identifiers

PMID: 11161844
DOI: 10.1006/mgme.2000.3129

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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