Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q (Q24517952)

2

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J L Weber

3

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R S Houlston

4

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J V Leonard

5

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P J Lee

Journal of Medical Genetics

6

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language of work or name

English

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publication date

April 1998

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published in

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volume

35

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page(s)

269-72

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issue

4

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cites work

Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a

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Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a

7 April 2017

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Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy

7 April 2017

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Parametric and nonparametric linkage analysis: a unified multipoint approach

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Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

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Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping

7 April 2017

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Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c

27 September 2017

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The management and outcome of propionic and methylmalonic acidaemia

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Cloning and expression of a hepatic microsomal glucose transport protein. Comparison with liver plasma-membrane glucose-transport protein GLUT 2

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Evidence for the participation of independent translocation for phosphate and glucose 6-phosphate in the microsomal glucose-6-phosphatase system. Interactions of the system with orthophosphate, inorganic pyrophosphate, and carbamyl phosphate

27 September 2017

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Infectious and bleeding complications in patients with glycogenosis Ib

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Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome

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12 December 2020

Glucose-6-phosphatase of the liver in glycogen storage disease

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Evidence for changes in the conformational status of rat liver microsomal glucose-6-phosphate:phosphohydrolase during detergent-dependent membrane modification. Effect of p-mercuribenzoate and organomercurial agarose gel on glucose-6-phosphatase of

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12 December 2020

Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2

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12 December 2020

A conformational model for the human liver microsomal glucose-6-phosphatase system: evidence from rapid kinetics and defects in glycogen storage disease type 1

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12 December 2020

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping

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12 December 2020