Glycogen storage disease type IX: High variability in clinical phenotype
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Beauchamp, NJ, Dalton, A, Ramaswami, U, Nimikoski, H, Mention, K, Kenny, P, Kolho, K-L, Raiman, J, Walter, J, Treacy, E , Tanner, S and Sharrard, M (2007) Glycogen storage disease type IX: High variability in clinical phenotype MOLECULAR GENETICS AND METABOLISM, 92 (1-2). pp. 88-99.
Full text not available from this repository.| Item Type: | Article | |||||||||||||||||||||||||||||||||||||||
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| Divisions : | Surrey research (other units) | |||||||||||||||||||||||||||||||||||||||
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| Date : | 1 September 2007 | |||||||||||||||||||||||||||||||||||||||
| DOI : | 10.1016/j.ymgme.2007.06.007 | |||||||||||||||||||||||||||||||||||||||
| Uncontrolled Keywords : | Science & Technology, Life Sciences & Biomedicine, Endocrinology & Metabolism, Genetics & Heredity, Medicine, Research & Experimental, Research & Experimental Medicine, BIOCHEMISTRY & MOLECULAR BIOLOGY, GENETICS & HEREDITY, MEDICINE, RESEARCH & EXPERIMENTAL, glycogen storage disease, phosphorylase kinase, mutations, liver, PHOSPHORYLASE-KINASE DEFICIENCY, LINKED LIVER GLYCOGENOSIS, BETA-SUBUNIT PHKB, ALPHA-SUBUNIT, MUSCLE GLYCOGENOSIS, NONSENSE MUTATION, MISSENSE MUTATION, GENE, PATIENT, ISOFORM | |||||||||||||||||||||||||||||||||||||||
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| Depositing User : | Symplectic Elements | |||||||||||||||||||||||||||||||||||||||
| Date Deposited : | 17 May 2017 13:10 | |||||||||||||||||||||||||||||||||||||||
| Last Modified : | 24 Jan 2020 23:33 | |||||||||||||||||||||||||||||||||||||||
| URI: | http://epubs.surrey.ac.uk/id/eprint/838236 |
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