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N protein activities in the blood of three patients with Duchenne muscular dystrophy and eight heterozygous carriers of the disease did not differ significantly from activities measured in blood of seven normal subjects. In contrast, the modified assay showed a 50% deficiency of N protein activity in blood of four patients with pseudohypoparathyroidism, type I, in whom erythrocyte studies had previously demonstrated a comparable degree of N deficiency.<\/jats:p>","DOI":"10.1002\/ajmg.1320150312","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:52:39Z","timestamp":1118515959000},"page":"469-474","source":"Crossref","is-referenced-by-count":5,"title":["A convenient method for measuring receptor\u2010cyclase coupling activity in whole blood: Application to Duchenne muscular dystrophy"],"prefix":"10.1002","volume":"15","author":[{"given":"Henry R.","family":"Bourne","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florence","family":"Steinberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitchell S.","family":"Golbus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zvi","family":"Farfel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-53-3-636"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-55-1-113"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-51-5-1202"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198007313030501"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.78.5.3098"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(78)90278-4"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.910129"},{"key":"e_1_2_1_9_1","first-page":"472","article-title":"Adenylate cyclase assembled in vitro: Cholera toxin substrates determine different patterns of regulation by isoproterenol and guanosine 5'\u2010triphosphate","volume":"15","author":"Kaslow HR","year":"1979","journal-title":"Mol Pharmacol"},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","first-page":"3736","DOI":"10.1016\/S0021-9258(19)85766-6","article-title":"A regulatory component of adenylate cyclase from human erythrocyte membranes","volume":"255","author":"Kaslow HR","year":"1980","journal-title":"J Biol Chem"},{"key":"e_1_2_1_11_1","first-page":"528","volume-title":"Fundamentals of Clinical Hematology","author":"Leavell BS","year":"1966"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(80)90563-X"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1976.00500070031006"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/252589a0"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bi.49.070180.002533"},{"key":"e_1_2_1_16_1","first-page":"349","volume-title":"Handbook of Clinical Neurology","author":"Rowland LP","year":"1979"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2736(77)90271-1"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/254525a0"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(79)90436-4"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320150312","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320150312","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T00:48:05Z","timestamp":1695775685000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320150312"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,7]]},"references-count":18,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1983,7]]}},"alternative-id":["10.1002\/ajmg.1320150312"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320150312","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1983,7]]}}}