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Article

Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q.

Journal of medical genetics - 1 Apr 1998

Fenske C D, Jeffery S, Weber J L, Houlston R S, Leonard J V, Lee P J

Abstract excerpt

The microsomal glucose-6-phosphatase (G6Pase) complex regulates the final step in glucose production from glycogenolysis and gluconeogenesis. Glycogen storage disease type 1c (GSD-1c) results from deficient activity of the phosphate/ pyrophosphate transporter of this complex and is associated with neutropenia as well as hepatomegaly and hypoglycaemia. Using three affected subjects from a single highly...

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Identifiers

PMID: 9598717
DOI: 10.1136/jmg.35.4.269
PMCID: PMC1051271

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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