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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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 1995
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801119/
https://ncbi.nlm.nih.gov/pubmed/7847371
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