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Genomic DNA was extracted, and 10 exons of the<\/jats:p><jats:p>We identified one previously unknown missense variation in the hinge region (HinR) of the<\/jats:p><jats:p>We report the ocurrence of a novel nonsynonymous substitution in the HinR of the large N-terminal extracellular domain of the<\/jats:p>","DOI":"10.1515\/jpem-2014-0194","type":"journal-article","created":{"date-parts":[[2014,8,19]],"date-time":"2014-08-19T17:01:00Z","timestamp":1408467660000},"source":"Crossref","is-referenced-by-count":3,"title":["Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion"],"prefix":"10.1515","volume":"28","author":[{"given":"Taise Lima Oliveira","family":"Cerqueira","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aurore","family":"Carr\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucie","family":"Chevrier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabor","family":"Szinnai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elodie","family":"Tron","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliane","family":"L\u00e9ger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvie","family":"Cabrol","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chrystelle","family":"Queinnec","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolas","family":"De Roux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mireille","family":"Castanet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Polak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2900-2099","authenticated-orcid":false,"given":"Helton Estrela","family":"Ramos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref801","doi-asserted-by":"crossref","first-page":"3497","DOI":"10.1093\/nar\/gkg500","article-title":"Multiple sequence alignment with the Clustal series of programs","volume":"31","author":"Chenna","year":"2003","journal-title":"Nucleic Acids Res"},{"key":"ref491","first-page":"766","article-title":"The protein - 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