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X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.

Two Dutch patients with liver phosphorylase kinase (PhK) deficiency were studied for abnormalities in the PhK liver alpha (alpha L) subunit mRNA by reversed-transcribed-PCR (RT-PCR) and RNase protection assays. One patient, belonging to a large Dutch family that expresses X-linked liver PhK deficien...

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Autors principals: van den Berg, I E, van Beurden, E A, Malingré, H E, van Amstel, H K, Poll-The, B T, Smeitink, J A, Lamers, W H, Berger, R
Format: Artigo
Idioma:Inglês
Publicat: 1995
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801119/
https://ncbi.nlm.nih.gov/pubmed/7847371
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