A Novel Albumin Gene Mutation (R222I) in Familial Dysalbuminemic Hyperthyroxinemia-Reference-Cited by-同舟云学术

A Novel Albumin Gene Mutation (R222I) in Familial Dysalbuminemic Hyperthyroxinemia

Published:2014-07-01 Issue:7 Volume:99 Page:E1381-E1386
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Schoenmakers Nadia¹,Moran Carla¹,Campi Irene²,Agostini Maura¹,Bacon Olivia³,Rajanayagam Odelia¹,Schwabe John⁴,Bradbury Sonia³,Barrett Timothy⁵,Geoghegan Frank⁶,Druce Maralyn⁷,Beck-Peccoz Paolo²,O'Toole Angela⁸,Clark Penelope⁸,Bignell Michelle⁹,Lyons Greta¹,Halsall David³,Gurnell Mark¹,Chatterjee Krishna¹

Affiliation:

1. University of Cambridge Metabolic Research Laboratories (N.S., C.M., M.A., O.R., G.L., M.G., K.C.), Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge CB2 0QQ, United Kingdom

2. Institute of Endocrine Sciences (I.C., P.B.-P.), University of Milan, 20132 Milan, Italy

3. Department of Clinical Biochemistry (O.B., S.B., D.H.), Addenbrooke's Hospital, Cambridge CB2 2OO, United Kingdom

4. Department of Biochemistry (J.S.), University of Leicester, Leicester LE1 7RH, United Kingdom

5. Departments of Paediatrics (T.B.), Birmingham B15 2TT, United Kingdom

6. Department of Clinical Biochemistry (F.G.), Ealing Hospital, London UB1 3EU, United Kingdom

7. Departments of Endocrinology (M.D.), St Bartholomew's Hospital, London E1 4NS, United Kingdom

8. Department of Clinical Biochemistry (A.O., P.C.), Selly Oak Hospital, Birmingham B29 6JD, United Kingdom

9. Clinical Chemistry (M.B.), Birmingham Childrens Hospital, Birmingham B15 2TT, United Kingdom

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/99/7/E1381/17638121/jcem1381.pdf

Reference16 articles.

1. Familial dysalbuminaemic hyperthyroxinaemia: a review;Jensen;J R Soc Med,1988

2. A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia;Petersen;J Med Genet,1994

3. An identical missense mutation in the albumin gene results in familial dysalbuminaemic hyperthyroxinaemia in 8 unrelated families;Sunthornthepvarakul;Biochem Biophys Res Commun,1994

4. Prevalence of familial dysalbuminemic hyperthyroxinemia in Hispanics;DeCosimo;Ann Intern Med,1987

5. A Chinese family with familial dysalbuminaemic hyperthyroxinaemia;Tiu;Hong Kong Med J,2003

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