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Glycogen storage disease type IX: High variability in clinical phenotype

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.

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Item Type: Article
Authors :
NameEmailORCID
Beauchamp, NJUNSPECIFIEDUNSPECIFIED
Dalton, Aa.dalton@surrey.ac.ukUNSPECIFIED
Ramaswami, UUNSPECIFIEDUNSPECIFIED
Nimikoski, HUNSPECIFIEDUNSPECIFIED
Mention, KUNSPECIFIEDUNSPECIFIED
Kenny, PUNSPECIFIEDUNSPECIFIED
Kolho, K-LUNSPECIFIEDUNSPECIFIED
Raiman, JUNSPECIFIEDUNSPECIFIED
Walter, JUNSPECIFIEDUNSPECIFIED
Treacy, EUNSPECIFIEDUNSPECIFIED
Tanner, SUNSPECIFIEDUNSPECIFIED
Sharrard, MUNSPECIFIEDUNSPECIFIED
Date : 1 September 2007
Identification Number : 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
Related URLs :
Depositing User : Symplectic Elements
Date Deposited : 17 May 2017 13:10
Last Modified : 17 May 2017 15:09
URI: http://epubs.surrey.ac.uk/id/eprint/838236

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