{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,12,30]],"date-time":"2022-12-30T05:18:01Z","timestamp":1672377481283},"reference-count":7,"publisher":"Hindawi Limited","issue":"10","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":1443,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2011,10]]},"DOI":"10.1002\/humu.21596","type":"journal-article","created":{"date-parts":[[2011,9,9]],"date-time":"2011-09-09T23:02:31Z","timestamp":1315609351000},"page":"1073-1074","source":"Crossref","is-referenced-by-count":0,"title":["Rare disease registries and mutation\/variation databases"],"prefix":"10.1155","volume":"32","author":[{"given":"Richard G. H.","family":"Cotton","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","published-online":{"date-parts":[[2011,9,19]]},"reference":[{"issue":"17","key":"10.1002\/humu.21596-BIB1|cit1","article-title":"Rare-disease project has global ambitions","volume":"472","author":"Abbott","year":"2011","journal-title":"Nature"},{"key":"10.1002\/humu.21596-BIB2|cit2","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1101\/gr.217702","article-title":"Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases","volume":"12","author":"Claustres","year":"2002","journal-title":"Gen Res"},{"key":"10.1002\/humu.21596-BIB3|cit3","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1097\/GIM.0b013e3181c371c5","article-title":"Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project","volume":"11","author":"Cotton","year":"2009","journal-title":"Genet in Med"},{"key":"10.1002\/humu.21596-BIB4|cit4","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1016\/S0140-6736(10)60680-0","article-title":"The case for a global rare-diseases registry","volume":"377","author":"Forrest","year":"2011","journal-title":"Lancet"},{"key":"10.1002\/humu.21596-BIB5|cit5","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1038\/nrg3011","article-title":"The case for locus-specific databases","volume":"12","author":"Samuels","year":"2011","journal-title":"Nat Rev Genet"},{"key":"10.1002\/humu.21596-BIB6|cit6","doi-asserted-by":"crossref","first-page":"1100","DOI":"10.1002\/humu.21551","article-title":"The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations","author":"van den Akker","year":"2011","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.21596-BIB7|cit7","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1097\/GIM.0b013e31817b80fd","article-title":"Developing a national collaborative study system for rare genetic diseases","volume":"10","author":"Watson","year":"2008","journal-title":"Genet in Med"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.21596","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.21596","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:54:24Z","timestamp":1672332864000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.21596"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9,19]]},"references-count":7,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2011,10]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.21596","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2011,9,19]]}}}