{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T22:55:54Z","timestamp":1771628154295,"version":"3.50.1"},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[1990,7,1]],"date-time":"1990-07-01T00:00:00Z","timestamp":646790400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1990,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>A deficiency in phosphorylase kinase is responsible for several forms of glycogen storage disease which differ in heredity and affected tissues. This is so because phosphorylase kinase consists of four different subunits and has multiple tissue\u2010specific isoforms. To elucidate the molecular basis of phosphorylase kinase deficiencies, the cDNAs encoding the subunits<jats:italic>\u03b1<\/jats:italic> and<jats:italic>\u03b2<\/jats:italic> were cloned and sequenced. Each subunit was shown to be encoded by a single gene. The<jats:italic>\u03b1<\/jats:italic> subunit gene was mapped to chromosome Xq12\u2013q13 and the<jats:italic>\u03b2<\/jats:italic> subunit gene to chromosome 16q12\u2013q13. Isoform cDNAs reveal differential mRNA splicing. Thus, the stage is set for the molecular characterization of the genes and their deficiency mutations.<\/jats:p>","DOI":"10.1007\/bf01799500","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T14:02:35Z","timestamp":1119362555000},"page":"435-441","source":"Crossref","is-referenced-by-count":9,"title":["Molecular genetics of phosphorylase kinase: cDNA cloning, chromosomal mapping and isoform structure"],"prefix":"10.1002","volume":"13","author":[{"given":"M. W.","family":"Kilimann","sequence":"first","affiliation":[{"name":"Institut f\u00fcr Physiologische Chemie (Abteilung f\u00fcr Biochemie Supramolekularer Systeme) Ruhr\u2010Universit\u00e4t Bochum  Postfach 10 21 48 Bochum 1 D\u20104630 FRG"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1990,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.36.4.560"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","unstructured":"Barnard P.J. Derry J.M.J. Ryder\u2010Cook A.S. Zander N.F.andKilimannM.W.Mapping of the phosphorylase kinase \u03b1 subunit gene on the mouse X chromosome.Cytogenet. 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