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Both loss and gain of function mutations have been described in disorders such as Albright hereditary osteodystrophy, nephrogenic diabetes insipidus, McCune\u2010Albright syndrome, and familial male precocious puberty. Identification of mutations in G protein\u2010coupled receptors and in G proteins in human diseases has provided unique insights into G protein\u2010coupled signal transduction, has important implications for diagnosis and potentially for treatment, and should stimulate the search for additional defects in G protein\u2010coupled signal transduction in other diseases.<\/jats:p>","DOI":"10.1023\/a:1005393501786","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T21:48:34Z","timestamp":1040507314000},"page":"113-121","source":"Crossref","is-referenced-by-count":39,"title":["Inborn errors of signal transduction: Mutations in G proteins and G protein\u2010coupled receptors as a cause of disease"],"prefix":"10.1002","volume":"20","author":[{"given":"A. 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