| pubmed-article:8298647 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8298647 | lifeskim:mentions | umls-concept:C0026809 | lld:lifeskim |
| pubmed-article:8298647 | lifeskim:mentions | umls-concept:C0026845 | lld:lifeskim |
| pubmed-article:8298647 | lifeskim:mentions | umls-concept:C0017963 | lld:lifeskim |
| pubmed-article:8298647 | lifeskim:mentions | umls-concept:C0031713 | lld:lifeskim |
| pubmed-article:8298647 | lifeskim:mentions | umls-concept:C0597298 | lld:lifeskim |
| pubmed-article:8298647 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:8298647 | lifeskim:mentions | umls-concept:C0011155 | lld:lifeskim |
| pubmed-article:8298647 | lifeskim:mentions | umls-concept:C0079380 | lld:lifeskim |
| pubmed-article:8298647 | lifeskim:mentions | umls-concept:C1321758 | lld:lifeskim |
| pubmed-article:8298647 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:8298647 | pubmed:dateCreated | 1994-3-10 | lld:pubmed |
| pubmed-article:8298647 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8298647 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8298647 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8298647 | pubmed:abstractText | Heritable phosphorylase kinase (Phk) deficiency underlies a group of glycogenoses in humans, mice and rats that differ in mode of inheritance and tissue-specificity. It is assumed that this heterogeneity is caused by mutations affecting different subunits and isoforms of Phk. As the first Phk deficiency mutation to be identified, we report a single-nucleotide insertion in the coding sequence of the Phk alpha subunit muscle isoform of the I-strain mouse. This mutation accounts for the virtually complete enzymatic deficiency, the tissue specificity and the X-linked mode of inheritance in this mutant. | lld:pubmed |
| pubmed-article:8298647 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8298647 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8298647 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:8298647 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8298647 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8298647 | pubmed:month | Dec | lld:pubmed |
| pubmed-article:8298647 | pubmed:issn | 1061-4036 | lld:pubmed |
| pubmed-article:8298647 | pubmed:author | pubmed-author:SchneiderAA | lld:pubmed |
| pubmed-article:8298647 | pubmed:author | pubmed-author:KilimannM WMW | lld:pubmed |
| pubmed-article:8298647 | pubmed:author | pubmed-author:DavidsonJ JJJ | lld:pubmed |
| pubmed-article:8298647 | pubmed:author | pubmed-author:WüllrichAA | lld:pubmed |
| pubmed-article:8298647 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8298647 | pubmed:volume | 5 | lld:pubmed |
| pubmed-article:8298647 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8298647 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8298647 | pubmed:pagination | 381-5 | lld:pubmed |
| pubmed-article:8298647 | pubmed:dateRevised | 2007-11-15 | lld:pubmed |
| pubmed-article:8298647 | pubmed:meshHeading | pubmed-meshheading:8298647-... | lld:pubmed |
| pubmed-article:8298647 | pubmed:meshHeading | pubmed-meshheading:8298647-... | lld:pubmed |
| pubmed-article:8298647 | pubmed:meshHeading | pubmed-meshheading:8298647-... | lld:pubmed |
| pubmed-article:8298647 | pubmed:meshHeading | pubmed-meshheading:8298647-... | lld:pubmed |
| pubmed-article:8298647 | pubmed:meshHeading | pubmed-meshheading:8298647-... | lld:pubmed |
| pubmed-article:8298647 | pubmed:meshHeading | pubmed-meshheading:8298647-... | lld:pubmed |
| pubmed-article:8298647 | pubmed:meshHeading | pubmed-meshheading:8298647-... | lld:pubmed |
| pubmed-article:8298647 | pubmed:meshHeading | pubmed-meshheading:8298647-... | lld:pubmed |
| pubmed-article:8298647 | pubmed:meshHeading | pubmed-meshheading:8298647-... | lld:pubmed |
| pubmed-article:8298647 | pubmed:meshHeading | pubmed-meshheading:8298647-... | lld:pubmed |
| pubmed-article:8298647 | pubmed:meshHeading | pubmed-meshheading:8298647-... | lld:pubmed |
| pubmed-article:8298647 | pubmed:meshHeading | pubmed-meshheading:8298647-... | lld:pubmed |
| pubmed-article:8298647 | pubmed:year | 1993 | lld:pubmed |
| pubmed-article:8298647 | pubmed:articleTitle | Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform. | lld:pubmed |
| pubmed-article:8298647 | pubmed:affiliation | Institut für Physiologische Chemie, Medizinische Fakulät, Ruhr-Universität, Bochum, Germany. | lld:pubmed |
| pubmed-article:8298647 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8298647 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:18679 | entrezgene:pubmed | pubmed-article:8298647 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:8298647 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:8298647 | lld:pubmed |
