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Glycogen storage disease type IX: High variability in clinical phenotype
Journal article

Glycogen storage disease type IX: High variability in clinical phenotype

NJ Beauchamp, A Dalton, U Ramaswami, H Nimikoski, K Mention, P Kenny, K-L Kolho, J Raiman, J Walter, E Treacy, …
MOLECULAR GENETICS AND METABOLISM, Vol.92(1-2), pp.88-99
01/09/2007
DOI: https://doi.org/10.1016/j.ymgme.2007.06.007

Abstract

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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