Consecutive Mutational Events in a TSHR Allele of Arab Families with Resistance to Thyroid Stimulating Hormone

BACKGROUND: Our laboratory identified six distinct inactivating TSHR gene mutations in Arab tribes living in Israel. We recently reported three nucleotide substitutions in exon 3 producing p.[L89L;Q90P] and one in exon 9 of the same allele producing p.P264S in Family A. Family B, reported herein, ha...

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Detaylı Bibliyografya
Asıl Yazarlar: Sriphrapradang, Chutintorn, German, Alina, Dumitrescu, Alexandra M., Refetoff, Samuel
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Mary Ann Liebert, Inc. 2012
Konular:
Original Studies, Reviews, and Scholarly DialogThyroid Dysfunction: Hypothyroidism, Thyrotoxicosis, and Thyroid Function Tests
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3286805/
https://ncbi.nlm.nih.gov/pubmed/22313426
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/thy.2011.0402
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