Mutations in the Glucose-6-Phosphatase Gene that Cause Glycogen Storage Disease Type 1a

Author:

Lei Ke-Jian1,Shelly Leslie L.1,Pan Chi-Jiunn1,Sidbury James B.1,Chou Janice Yang1

Affiliation:

1. Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference24 articles.

1. ARION, W.J., SPECIFICITY OF GLUCOSE 6-PHOSPHATASE OF INTACT LIVER-MICROSOMES, JOURNAL OF BIOLOGICAL CHEMISTRY 247: 2558 (1972).

2. ARION, W.J., GLUCOSE-6-PHOSPHATE TRANSPORT AND MICROSOMAL GLUCOSE-6-PHOSPHATASE .6. EVIDENCE FOR THE PARTICIPATION OF INDEPENDENT TRANSLOCASES FOR PHOSPHATE AND GLUCOSE-6-PHOSPHATE IN THE MICROSOMAL GLUCOSE-6-PHOSPHATASE SYSTEM - INTERACTIONS OF THE SYSTEM WITH ORTHO-PHOSPHATE, INORGANIC PYROPHOSPHATE, AND CARBAMYL-PHOSPHATEE, JOURNAL OF BIOLOGICAL CHEMISTRY 255: 396 (1980).

3. Beaudet A. L. Harrison's Principles of Internal Medicine 12 1854 (1991).

4. BURCHELL, A, A NEW MICROTECHNIQUE FOR THE ANALYSIS OF THE HUMAN HEPATIC-MICROSOMAL GLUCOSE-6-PHOSPHATASE SYSTEM, CLINICA CHIMICA ACTA 173: 183 (1988).

5. COUNTAWAY, J.L., THE PHOSPHOHYDROLASE COMPONENT OF THE HEPATIC-MICROSOMAL GLUCOSE-6-PHOSPHATASE SYSTEM IS A 36.5-KILODALTON POLYPEPTIDE, JOURNAL OF BIOLOGICAL CHEMISTRY 263: 2673 (1988).

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